E9Q9C4 · E9Q9C4_MOUSE
- ProteinActin-binding LIM protein 1
- GeneAblim1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids682 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389515334 | 5 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000085.7:g.57185732T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57185732T>A Locations: - p.Lys5Asn (Ensembl:ENSMUST00000111550) - c.15A>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389559511 | 17 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57161859C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57161859C>G Locations: - p.Glu17Gln (Ensembl:ENSMUST00000111550) - c.49G>C (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409349349 | 48 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57161766T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57161766T>C Locations: - p.Thr48Ala (Ensembl:ENSMUST00000111550) - c.142A>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409476156 | 48 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000085.7:g.57161765G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57161765G>A Locations: - p.Thr48Ile (Ensembl:ENSMUST00000111550) - c.143C>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389559498 | 57 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57143749G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57143749G>A Locations: - p.Ala57Val (Ensembl:ENSMUST00000111550) - c.170C>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389496735 | 105 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57143604G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57143604G>C Locations: - p.Cys105Trp (Ensembl:ENSMUST00000111550) - c.315C>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389496782 | 130 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57140761C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57140761C>T Locations: - p.Cys130Tyr (Ensembl:ENSMUST00000111550) - c.389G>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409017910 | 147 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57140710G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57140710G>C Locations: - p.Ser147Cys (Ensembl:ENSMUST00000111550) - c.440C>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389541492 | 156 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57123119T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57123119T>G Locations: - p.Asp156Ala (Ensembl:ENSMUST00000111550) - c.467A>C (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389542316 | 169 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57123079C>A, NC_000085.7:g.57123079C>G Codon: CAG/CAT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57123079C>A, NC_000085.7:g.57123079C>G Locations: - p.Gln169His (Ensembl:ENSMUST00000111550) - c.507G>T (Ensembl:ENSMUST00000111550) - c.507G>C (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389559750 | 170 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.57123076C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.57123076C>T Locations: - p.Trp170Ter (Ensembl:ENSMUST00000111550) - c.510G>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389557374 | 200 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57121362C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57121362C>A Locations: - p.Asp200Tyr (Ensembl:ENSMUST00000111550) - c.598G>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389564448 | 204 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57121350G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57121350G>A Locations: - p.Leu204Phe (Ensembl:ENSMUST00000111550) - c.610C>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389496742 | 205 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57121345A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57121345A>T Locations: - p.Phe205Leu (Ensembl:ENSMUST00000111550) - c.615T>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389552695 | 220 | V>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57121302C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57121302C>A Locations: - p.Val220Phe (Ensembl:ENSMUST00000111550) - c.658G>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389557307 | 236 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57071996T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57071996T>A Locations: - p.Ser236Cys (Ensembl:ENSMUST00000111550) - c.706A>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs1133010993 | 277 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000085.7:g.57065913C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57065913C>T Locations: - p.Arg277His (Ensembl:ENSMUST00000111550) - c.830G>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs30763821 | 278 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57065910G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57065910G>A Locations: - p.Ser278Phe (Ensembl:ENSMUST00000111550) - c.833C>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389547910 | 283 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000085.7:g.57065896A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57065896A>G Locations: - p.Phe283Leu (Ensembl:ENSMUST00000111550) - c.847T>C (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409875294 | 289 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57065877A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57065877A>T Locations: - p.Ile289Asn (Ensembl:ENSMUST00000111550) - c.866T>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409222972 | 289 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.62) Somatic: No Accession: NC_000085.7:g.57065878T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57065878T>C Locations: - p.Ile289Val (Ensembl:ENSMUST00000111550) - c.865A>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409474428 | 292 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000085.7:g.57065869T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57065869T>C Locations: - p.Thr292Ala (Ensembl:ENSMUST00000111550) - c.874A>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389527769 | 295 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57065859G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57065859G>A Locations: - p.Ser295Phe (Ensembl:ENSMUST00000111550) - c.884C>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409223157 | 316 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57057319G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57057319G>C Locations: - p.Ile316Met (Ensembl:ENSMUST00000111550) - c.948C>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409015740 | 319 | S>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.57057311G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.57057311G>T Locations: - p.Ser319Ter (Ensembl:ENSMUST00000111550) - c.956C>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3409474416 | 319 | S>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57057312A>C Codon: TCA/GCA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57057312A>C Locations: - p.Ser319Ala (Ensembl:ENSMUST00000111550) - c.955T>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389541472 | 330 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57056666T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57056666T>A Locations: - p.Asn330Tyr (Ensembl:ENSMUST00000111550) - c.988A>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389496794 | 344 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57056624C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57056624C>T Locations: - p.Val344Ile (Ensembl:ENSMUST00000111550) - c.1030G>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389564382 | 349 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57056607G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57056607G>C Locations: - p.Asp349Glu (Ensembl:ENSMUST00000111550) - c.1047C>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389548165 | 350 | I>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57056606T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57056606T>A Locations: - p.Ile350Phe (Ensembl:ENSMUST00000111550) - c.1048A>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389505585 | 351 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.57056603C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.57056603C>A Locations: - p.Glu351Ter (Ensembl:ENSMUST00000111550) - c.1051G>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389542331 | 371 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000085.7:g.57056544_57056545insACACTACCTCAACCATCACTCAC Codon: -/TGAGTGATGGTTGAGGTAGTGTG Consequence type: stop gained Cytogenetic band: 19q Genomic location: NC_000085.7:g.57056544_57056545insACACTACCTCAACCATCACTCAC Locations: - p.Glu371Ter (Ensembl:ENSMUST00000111550) - c.1110_1111insTGAGTGATGGTTGAGGTAGTGTG (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389515338 | 374 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57056534T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57056534T>C Locations: - p.Ser374Gly (Ensembl:ENSMUST00000111550) - c.1120A>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389548962 | 385 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57052211G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57052211G>A Locations: - p.Thr385Ile (Ensembl:ENSMUST00000111550) - c.1154C>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs261058289 | 395 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57049798C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57049798C>T Locations: - p.Arg395Gln (Ensembl:ENSMUST00000111550) - c.1184G>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3554368798 | 397 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000085.7:g.57049792C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57049792C>T Locations: - p.Arg397Gln (Ensembl:ENSMUST00000111550) - c.1190G>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389496775 | 436 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57039657G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57039657G>A Locations: - p.Pro436Leu (Ensembl:ENSMUST00000111550) - c.1307C>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389544962 | 526 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57032296T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57032296T>A Locations: - p.Glu526Val (Ensembl:ENSMUST00000111550) - c.1577A>T (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389505581 | 605 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57028960T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57028960T>C Locations: - p.Met605Val (Ensembl:ENSMUST00000111550) - c.1813A>G (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389496770 | 610 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57028945A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57028945A>T Locations: - p.Ser610Thr (Ensembl:ENSMUST00000111550) - c.1828T>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389542293 | 657 | F>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57025735A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57025735A>G Locations: - p.Phe657Ser (Ensembl:ENSMUST00000111550) - c.1970T>C (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: | |||||||
rs3389496749 | 670 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000085.7:g.57025697A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 19q Genomic location: NC_000085.7:g.57025697A>T Locations: - p.Trp670Arg (Ensembl:ENSMUST00000111550) - c.2008T>A (Ensembl:ENSMUST00000111550) Source type: large scale study Cross-references: |