Q9BUE6 · ISCA1_HUMAN
- ProteinIron-sulfur cluster assembly 1 homolog, mitochondrial
- GeneISCA1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids129 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
rs753150612 | 2 | S>A | ExAC gnomAD | |||
rs768038819 | 2 | S>L | ExAC TOPMed gnomAD | |||
rs753150612 | 2 | S>P | ExAC gnomAD | |||
rs755553369 | 3 | A>G | ExAC TOPMed gnomAD | |||
rs755553369 | 3 | A>V | ExAC TOPMed gnomAD | |||
rs1825534064 | 5 | L>S | Ensembl | |||
rs766827180 | 7 | R>L | ExAC gnomAD | |||
rs766827180 | 7 | R>Q | ExAC gnomAD | |||
rs1445011874 | 7 | R>W | TOPMed gnomAD | |||
rs772924113 | 8 | A>E | ExAC gnomAD | |||
rs762510885 | 8 | A>S | ExAC gnomAD | |||
rs772924113 | 8 | A>V | ExAC gnomAD | |||
rs1825533795 | 9 | T>S | Ensembl | |||
RCV000857321 rs1587823007 | 10 | V>G | Multiple mitochondrial dysfunctions syndrome 5 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |
rs1026138268 | 10 | V>L | TOPMed gnomAD | |||
rs764783789 | 11 | R>W | ExAC TOPMed gnomAD | |||
rs987794082 | 12 | A>V | TOPMed gnomAD | |||
rs761430493 | 13 | V>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs1479516997 | 15 | K>R | gnomAD | |||
rs2131230450 | 17 | K>Q | 1000Genomes | |||
rs1205078575 | 19 | Q>* | gnomAD | |||
rs1441351613 | 21 | T>A | gnomAD | |||
rs1461778142 | 21 | T>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs1007323312 | 22 | R>Q | gnomAD | |||
rs756524262 | 22 | R>W | ExAC TOPMed gnomAD | |||
rs1308048697 | 23 | A>E | gnomAD | |||
rs1222467183 | 25 | L>R | gnomAD | |||
rs953300144 | 26 | T>A | TOPMed gnomAD | |||
RCV002047657 rs1299255286 | 26 | T>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
rs1032017626 | 29 | P>T | TOPMed gnomAD | |||
rs1825411359 | 31 | A>V | Ensembl | |||
COSV58182072 rs928507226 | 32 | V>I | cosmic curated TOPMed gnomAD | |||
rs1440281002 | 34 | K>Q | TOPMed | |||
COSV100276484 COSV100276531 | 37 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs763725292 | 37 | Q>E | ExAC gnomAD | |||
rs2131224233 | 38 | L>H | Ensembl | |||
COSV106421974 rs1333093455 | 39 | L>F | cosmic curated TOPMed gnomAD | |||
rs1333093455 | 39 | L>V | TOPMed gnomAD | |||
rs1825410978 | 41 | D>H | TOPMed gnomAD | |||
rs1825410952 | 42 | K>E | Ensembl | |||
rs1054729742 | 43 | P>H | TOPMed | |||
rs1054729742 | 43 | P>L | TOPMed | |||
rs1234377820 | 44 | E>K | TOPMed gnomAD | |||
rs1383987957 | 45 | H>Q | TOPMed gnomAD | |||
rs1293611665 | 45 | H>Y | gnomAD | |||
rs1825377558 | 46 | V>L | TOPMed | |||
rs1441337310 | 53 | R>* | TOPMed gnomAD | |||
COSV58181299 rs368218180 | 53 | R>Q | cosmic curated ESP ExAC TOPMed gnomAD | |||
rs998940745 | 55 | R>K | TOPMed | |||
rs1463087408 | 56 | G>D | gnomAD | |||
rs966919249 | 56 | G>S | Ensembl | |||
rs756965677 | 58 | N>K | ExAC gnomAD | |||
rs1176960931 | 59 | G>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs753543179 | 60 | L>H | ExAC TOPMed gnomAD | |||
rs763453804 | 61 | S>P | ExAC | |||
rs1452263008 | 62 | Y>C | gnomAD | |||
rs1396497925 | 65 | E>A | gnomAD | |||
RCV001883577 rs2131222970 | 68 | K>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
rs1194713969 | 69 | T>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
TCGA novel | 70 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs752534437 | 72 | D>G | ExAC TOPMed gnomAD | |||
rs374369045 | 72 | D>H | ESP ExAC TOPMed gnomAD | |||
rs1376283504 | 73 | S>F | TOPMed | |||
rs1198024496 | 74 | D>G | TOPMed gnomAD | |||
rs1825376560 | 74 | D>H | gnomAD | |||
TCGA novel | 74-79 | DE>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs767454483 | 76 | E>V | ExAC TOPMed gnomAD | |||
COSV58181577 | 78 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1255552404 | 78 | I>T | gnomAD | |||
rs1825291340 | 81 | G>A | TOPMed | |||
rs1324359474 | 82 | V>L | TOPMed gnomAD | |||
rs140944675 | 83 | R>K | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
TCGA novel | 83 | R>Q | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs1564007924 | 85 | F>L | Ensembl | |||
TCGA novel | 85 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV100276464 | 85 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs776679653 | 87 | E>* | Pathogenic (Ensembl) | ExAC gnomAD | ||
VAR_079296 CA5108230 RCV000497255 RCV000508655 rs776679653 | 87 | E>K | MMDS5; uncertain significance (UniProt) Multiple mitochondrial dysfunctions syndrome 5 (ClinVar) Fatal multiple mitochondrial dysfunctions syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | UniProt ClinGen ClinVar ExAC dbSNP gnomAD | |
COSV58181288 | 88 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1825291094 | 92 | L>I | gnomAD | |||
rs764346722 | 93 | T>A | ExAC TOPMed gnomAD | |||
rs1463536884 | 93 | T>I | gnomAD | |||
TCGA novel | 97 | T>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1172347119 | 98 | E>* | TOPMed | |||
rs1172347119 | 98 | E>Q | TOPMed | |||
rs775633901 | 98 | E>V | ExAC gnomAD | |||
rs1474450437 | 99 | M>V | gnomAD | |||
rs1825290884 | 103 | E>K | TOPMed | |||
rs967582319 | 104 | D>G | TOPMed | |||
rs1024857402 | 105 | K>Q | TOPMed | |||
rs200362832 | 105 | K>R | TOPMed gnomAD | |||
rs535080629 | 106 | L>I | gnomAD | |||
rs772282632 | 106 | L>S | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
TCGA novel | 107 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1825290654 | 110 | F>L | TOPMed | |||
rs202167982 | 113 | N>S | 1000Genomes ExAC TOPMed gnomAD | |||
rs202167982 | 113 | N>T | 1000Genomes ExAC TOPMed gnomAD | |||
rs1330485870 | 115 | P>L | TOPMed | |||
rs1448853090 | 117 | I>M | TOPMed gnomAD | |||
COSV58182245 rs755775475 | 119 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs1034552834 | 121 | C>W | TOPMed gnomAD | |||
rs1227614510 | 121 | C>Y | TOPMed gnomAD | |||
rs1587816908 | 123 | C>W | Ensembl | |||
rs1825289096 | 123 | C>Y | gnomAD | |||
rs1324368522 | 126 | S>R | TOPMed gnomAD | |||
rs754500672 | 129 | I>M | ExAC gnomAD | |||
rs61747686 | 129 | I>S | Ensembl | |||