O95202
PR
Gene name |
LETM1 |
Protein name |
Mitochondrial proton/calcium exchanger protein |
Names |
Leucine zipper-EF-hand-containing transmembrane protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3954 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O95202
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95202-F1 | Predicted | AlphaFoldDB |
580 variants for O95202
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs753905629 CA356010590 RCV000577863 |
96 | V>M | Ependymoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs145996246 CA2811644 RCV002489385 RCV000966177 CA2811642 |
131 | N>K | 4p partial monosomy syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_087731 | 252 | K>del | CONDMIM; decreased function in mitochondrial potassium ion transmembrane transport; does not fully rescue defective proton/potassium exchange in letm1-deficient yeast [UniProt] | Yes | UniProt |
| VAR_087732 | 293 | I>N | CONDMIM; decreased function in mitochondrial potassium ion transmembrane transport; does not fully rescue defective proton/potassium exchange in letm1-deficient yeast [UniProt] | Yes | UniProt |
|
rs750286012 VAR_087733 CA2811476 |
294 | R>Q | CONDMIM; decreased function in mitochondrial potassium ion transmembrane transport; does not fully rescue defective proton/potassium exchange in letm1-deficient yeast [UniProt] | Yes |
ClinGen ExAC TOPMed UniProt |
| VAR_087734 | 300 | P>S | CONDMIM; homozygous patient cells show altered levels of components of the oxidative phosphorylation machinery; decreased function in mitochondrial potassium ion transmembrane transport; does not fully rescue defective proton/potassium exchange in letm1-deficient yeast [UniProt] | Yes | UniProt |
| VAR_087736 | 358 | D>N | CONDMIM; homozygous patient cells show abnormal mitochondrial morphology and altered levels of components of the oxidative phosphorylation machinery; loss of function in mitochondrial potassium ion transmembrane transport; does not rescue defective proton/potassium exchange in letm1-deficient yeast [UniProt] | Yes | UniProt |
| VAR_087737 | 380 | R>P | CONDMIM; unknown pathological significance; decreased function in mitochondrial potassium ion transmembrane transport; does not fully rescue defective proton/potassium exchange in letm1-deficient yeast [UniProt] | Yes | UniProt |
|
VAR_087738 rs201808137 CA2811385 |
393 | R>H | CONDMIM; unknown pathological significance [UniProt] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
|
RCV001195997 rs1711880083 |
421 | M>L | 4p partial monosomy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1015073272 CA91290226 |
3 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1015073272 CA91290220 |
3 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA91290192 rs542455621 |
4 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs970679636 CA91290214 |
4 | I>V | No |
ClinGen TOPMed |
|
|
rs1219913900 CA356015039 |
8 | S>G | No |
ClinGen TOPMed |
|
|
CA356015038 rs1258346985 |
8 | S>N | No |
ClinGen TOPMed |
|
|
rs1208488338 CA356015025 |
10 | R>G | No |
ClinGen TOPMed |
|
|
CA91290161 rs1012052911 |
11 | G>D | No |
ClinGen TOPMed |
|
|
CA356015018 rs1335734254 |
11 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356015011 rs1220009325 |
12 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356015012 rs1220009325 |
12 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA356015009 rs1478870180 |
13 | A>S | No |
ClinGen TOPMed |
|
|
CA356015007 rs1478870180 |
13 | A>T | No |
ClinGen TOPMed |
|
|
CA91290150 rs1048202015 |
14 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2811779 rs531801469 |
14 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769399334 RCV000938911 CA2811778 |
18 | P>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1392569275 CA356014981 |
18 | P>S | No |
ClinGen TOPMed |
|
|
CA356014960 rs1329093954 |
21 | P>R | No |
ClinGen gnomAD |
|
|
rs1295656589 CA356014956 |
22 | R>P | No |
ClinGen TOPMed |
|
|
rs1320756932 CA356014948 |
23 | Y>F | No |
ClinGen TOPMed |
|
|
rs1037067624 CA91290143 |
28 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1055249043 CA91284751 |
29 | S>G | No |
ClinGen Ensembl |
|
|
CA91284737 COSM1539797 rs1040223952 |
30 | P>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA91284732 rs375368844 |
32 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2811764 rs764576993 |
32 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2811765 rs375368844 |
32 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761082505 CA2811763 |
34 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768194638 CA2811761 |
35 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1560509053 CA356013673 |
37 | S>N | No |
ClinGen Ensembl |
|
|
CA356013647 rs1304658967 |
39 | A>S | No |
ClinGen gnomAD |
|
|
rs1405494164 CA356013627 |
40 | S>N | No |
ClinGen gnomAD |
|
|
CA356013598 rs1162803267 |
42 | L>V | No |
ClinGen gnomAD |
|
|
COSM1694078 CA2811759 rs566954960 |
45 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2811758 rs769325332 |
46 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA356013565 rs769325332 |
46 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs761390527 CA2811757 |
46 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91284697 rs979025019 |
47 | C>Y | No |
ClinGen gnomAD |
|
|
rs116034211 RCV000964956 CA2811720 |
50 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA91280625 rs1021256167 |
52 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA356011830 rs1577324116 |
53 | G>S | No |
ClinGen Ensembl |
|
|
CA2811715 rs760369653 |
58 | I>M | No |
ClinGen ExAC |
|
|
rs775159133 CA2811714 |
59 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190542828 CA2811712 |
60 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2811711 rs190542828 |
60 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375093946 CA91280589 |
61 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2811707 rs769941330 |
62 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs367912514 CA91280573 |
63 | T>A | No |
ClinGen ESP TOPMed |
|
|
CA356011151 rs1373146076 COSM1428763 |
63 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs781408033 CA2811705 |
66 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356011112 rs1366685238 |
66 | R>T | No |
ClinGen gnomAD |
|
|
rs780279688 CA2811702 |
68 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811703 rs747462740 |
68 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs564235030 CA91280553 |
69 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1419231056 CA356011021 |
70 | L>F | No |
ClinGen gnomAD |
|
|
CA2811700 rs750908839 |
71 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1490828233 CA356010999 |
72 | C>R | No |
ClinGen gnomAD |
|
|
CA2811698 rs755585213 |
72 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA2811699 rs777288550 |
72 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356010951 rs1354401046 |
74 | A>T | No |
ClinGen gnomAD |
|
|
rs1262567707 CA356010933 |
74 | A>V | No |
ClinGen gnomAD |
|
|
CA356010900 rs1328687471 |
76 | R>G | No |
ClinGen gnomAD |
|
|
rs767143702 CA2811696 |
76 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1010943728 CA91280504 |
78 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1023631712 CA91280506 |
78 | E>K | No |
ClinGen gnomAD |
|
|
rs751408548 CA2811694 |
80 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2811693 rs139973539 |
81 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763003148 CA2811692 |
81 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA2811690 rs141137099 |
82 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs61759826 RCV000894012 CA2811691 |
82 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2811689 rs761924755 |
83 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811688 rs202034038 |
84 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811687 rs202034038 |
84 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772380024 CA2811684 |
86 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91280422 rs367701000 |
89 | T>A | No |
ClinGen Ensembl |
|
|
rs370664554 CA2811681 |
89 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2811680 rs752312218 |
90 | S>T | No |
ClinGen ExAC |
|
|
CA356010638 rs1337814828 |
92 | S>F | No |
ClinGen TOPMed |
|
|
CA2811677 rs537041898 |
95 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356010602 rs537041898 |
95 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200375645 CA2811675 |
95 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811676 rs200375645 |
95 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753905629 CA91280379 |
96 | V>L | No |
ClinGen Ensembl |
|
|
CA356010566 rs1328658995 |
97 | A>G | No |
ClinGen gnomAD |
|
|
rs750399223 CA2811674 |
97 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356010564 rs1328658995 |
97 | A>V | No |
ClinGen gnomAD |
|
|
CA2811673 rs765321377 |
98 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs577903609 CA2811671 |
100 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142447147 CA2811668 |
101 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2811670 rs764060391 |
101 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs560933887 CA91280340 |
102 | C>G | No |
ClinGen TOPMed |
|
|
rs560933887 CA91280343 |
102 | C>R | No |
ClinGen TOPMed |
|
|
CA91280331 rs201925814 |
102 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs911498884 CA91280329 |
104 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2811666 rs746177401 |
105 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2811665 rs201405849 |
106 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201405849 CA356010431 |
106 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2811664 rs138076114 COSM1539809 |
106 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA356010392 rs1367096685 |
107 | G>V | No |
ClinGen TOPMed |
|
|
rs62623389 CA2811662 |
109 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1461897001 CA356010321 |
111 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2811660 rs746673958 |
112 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141887003 CA2811659 |
112 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356010312 rs141887003 |
112 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1577323904 CA356010299 |
113 | P>L | No |
ClinGen Ensembl |
|
|
rs878877484 CA91280286 |
113 | P>S | No |
ClinGen gnomAD |
|
|
rs758109935 CA2811658 |
114 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811655 rs757270297 |
115 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757270297 CA2811656 |
115 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116753949 CA2811653 |
115 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116753949 CA2811654 |
115 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2811651 rs150198439 |
116 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767788848 CA2811650 |
118 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA91280232 rs202171442 |
119 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202171442 CA2811648 |
119 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1445502729 CA356010103 |
125 | K>N | No |
ClinGen gnomAD |
|
|
rs1185438675 CA356010108 |
125 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749828409 CA2811646 |
127 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA356010057 rs1251679698 |
129 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2811645 rs773521079 |
129 | D>N | No |
ClinGen ExAC |
|
|
CA91280214 rs549779322 |
131 | N>S | No |
ClinGen 1000Genomes |
|
|
CA356009972 rs1283287391 |
138 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs756962449 CA2811638 |
138 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356009973 rs1283287391 |
138 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs147072184 CA2811636 |
139 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147072184 CA2811637 |
139 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147072184 CA356009965 |
139 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255641794 CA356009969 |
139 | P>S | No |
ClinGen gnomAD |
|
|
CA356009931 rs1325792710 |
142 | S>T | No |
ClinGen gnomAD |
|
|
CA2811631 rs563564100 |
143 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2811632 rs563564100 |
143 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811633 rs563564100 |
143 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356009909 rs1368586819 |
144 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376547370 CA356009905 |
144 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376547370 CA2811630 |
144 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376547370 CA356009903 |
144 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356009907 rs1368586819 |
144 | P>S | No |
ClinGen TOPMed gnomAD |
|
| rs745839823 | 145 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745839823 | 145 | A>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91280122 rs559993367 |
145 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA356009889 rs1384175910 |
146 | E>K | No |
ClinGen TOPMed |
|
|
CA356009861 rs1304925742 |
148 | V>L | No |
ClinGen TOPMed |
|
|
rs371780724 CA2811626 |
152 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356009810 rs1577323781 |
152 | S>T | No |
ClinGen Ensembl |
|
|
rs371780724 CA2811625 |
152 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745548211 CA91280107 |
156 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141640126 CA2811621 |
156 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2811620 rs141640126 |
156 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745548211 CA2811622 |
156 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91280098 rs901294749 |
157 | V>A | No |
ClinGen Ensembl |
|
|
CA356009752 rs901294749 |
157 | V>G | No |
ClinGen Ensembl |
|
|
CA91280102 rs932406771 |
157 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2811618 rs777624402 |
160 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227600691 CA356009656 |
165 | Y>H | No |
ClinGen gnomAD |
|
|
CA2811615 rs762531114 |
168 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs754980501 CA2811614 |
169 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811613 rs751790736 |
169 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560501006 CA356009560 |
172 | W>C | No |
ClinGen Ensembl |
|
|
rs1412927245 CA356009558 |
173 | I>L | No |
ClinGen gnomAD |
|
|
CA2811611 rs763231893 |
174 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1465591490 COSM178254 CA356009545 |
174 | D>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA356009495 rs1192354329 |
178 | A>T | No |
ClinGen gnomAD |
|
|
CA2811609 rs765611500 |
178 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218688217 CA356009467 |
180 | R>C | No |
ClinGen gnomAD |
|
|
rs1448189730 CA356009466 |
180 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 180 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048603410 CA91280052 |
181 | M>T | No |
ClinGen Ensembl |
|
|
CA356009457 rs1268423205 |
181 | M>V | No |
ClinGen gnomAD |
|
|
rs762433668 CA2811608 |
184 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs192678949 CA91280048 |
184 | R>H | No |
ClinGen 1000Genomes |
|
|
rs771714060 CA2811606 |
186 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2811605 rs759059110 |
187 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356009322 rs1366757571 |
187 | N>S | No |
ClinGen gnomAD |
|
|
CA356009324 rs1366757571 |
187 | N>T | No |
ClinGen gnomAD |
|
|
CA356009308 rs1323938223 |
188 | G>D | No |
ClinGen TOPMed |
|
|
rs1433033198 CA356009315 COSM178253 |
188 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA356009298 rs1203755058 |
189 | H>D | No |
ClinGen TOPMed |
|
| TCGA novel | 189 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770560562 CA2811603 |
191 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA356009258 rs748942531 |
192 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs748942531 CA2811602 |
192 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA91280021 rs918217787 |
193 | R>C | No |
ClinGen TOPMed |
|
|
rs1481330574 CA356009238 |
193 | R>H | No |
ClinGen TOPMed |
|
|
rs748080364 CA2811598 |
194 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2811599 rs769535425 |
194 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA91280019 rs752365763 |
195 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 196 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781045273 CA2811597 |
196 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356009140 rs1430458028 |
198 | Q>* | No |
ClinGen TOPMed |
|
|
CA2811596 rs375200513 |
198 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1369684326 CA356008313 |
201 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1330011911 CA356008315 |
201 | R>W | No |
ClinGen gnomAD |
|
|
rs780018158 CA356008288 |
203 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780018158 CA2811576 |
203 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746084122 CA2811574 |
205 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs201510306 CA91277788 |
208 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs201510306 CA91277785 |
208 | R>L | No |
ClinGen 1000Genomes |
|
|
rs754324475 CA2811571 |
212 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs756631437 CA2811569 |
215 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2811567 rs765808195 |
216 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356008078 rs1229437911 |
218 | V>L | No |
ClinGen gnomAD |
|
|
rs1229437911 CA356008080 |
218 | V>M | No |
ClinGen gnomAD |
|
|
rs566879390 CA91277764 |
219 | P>R | No |
ClinGen 1000Genomes |
|
|
rs1464102043 CA356008051 |
220 | F>Y | No |
ClinGen TOPMed |
|
|
rs1333402477 CA356008041 |
221 | M>V | No |
ClinGen TOPMed |
|
|
CA356007996 rs1407293209 |
223 | F>L | No |
ClinGen gnomAD |
|
|
CA356007954 rs1440374551 |
227 | V>I | No |
ClinGen TOPMed |
|
|
rs1392267014 CA356007935 |
228 | A>G | No |
ClinGen gnomAD |
|
|
rs879085003 CA91277749 |
234 | N>I | No |
ClinGen gnomAD |
|
|
CA356007821 rs1472827625 |
235 | M>K | No |
ClinGen gnomAD |
|
|
CA2811563 rs761423662 |
235 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2811562 rs776458995 |
237 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1179928259 CA356007779 |
238 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA356007781 rs1179928259 |
238 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA356007675 rs1220936649 |
243 | Q>* | No |
ClinGen TOPMed |
|
|
rs1301873686 CA356007668 |
243 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA356007636 rs1434773887 |
244 | S>A | No |
ClinGen gnomAD |
|
|
CA2811560 rs370421675 |
245 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356006846 rs1299100667 |
248 | E>K | No |
ClinGen gnomAD |
|
|
CA91276962 rs923964104 |
251 | K>Q | No |
ClinGen Ensembl |
|
|
CA2811537 rs774626391 |
252 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91276955 rs1042405619 |
253 | E>K | No |
ClinGen Ensembl |
|
|
rs199968058 CA2811536 COSM1053543 |
255 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs944110824 CA91276947 |
256 | V>F | No |
ClinGen gnomAD |
|
|
rs749556238 CA2811535 |
256 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2811534 rs778079867 |
258 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356006413 rs1251741808 |
261 | A>S | No |
ClinGen TOPMed |
|
|
CA2811531 rs781376495 |
262 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356006305 rs1392116047 |
264 | L>F | No |
ClinGen gnomAD |
|
|
CA356006271 rs1169251915 |
265 | Q>* | No |
ClinGen gnomAD |
|
|
CA2811527 rs756689184 |
269 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA91276906 rs538968139 |
272 | A>S | No |
ClinGen Ensembl |
|
|
CA2811525 rs369185544 |
275 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1255824700 CA356005892 |
275 | N>S | No |
ClinGen gnomAD |
|
|
CA356005820 rs1577320297 |
277 | A>P | No |
ClinGen Ensembl |
|
|
rs1276193753 CA356005753 |
279 | K>M | No |
ClinGen gnomAD |
|
|
rs1276193753 CA356005754 |
279 | K>R | No |
ClinGen gnomAD |
|
|
CA91276891 rs755696489 |
281 | S>I | No |
ClinGen Ensembl |
|
|
CA91276890 rs146247493 |
281 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1340815089 CA356005688 |
282 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2811521 rs117436250 |
283 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2811520 rs774395334 |
284 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1340850348 CA356005573 |
284 | K>R | No |
ClinGen gnomAD |
|
|
CA356005520 COSM1053539 rs1193414497 |
286 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA2811518 rs773416609 |
287 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356005514 rs1412882463 |
287 | S>P | No |
ClinGen gnomAD |
|
|
CA2811517 rs773416609 |
287 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811516 CA356005491 rs770092773 |
288 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2811477 rs758429351 |
294 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs372497025 CA2811474 |
296 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2811470 rs548475002 |
298 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548475002 CA2811471 |
298 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs964368488 CA91275753 |
301 | S>R | No |
ClinGen Ensembl |
|
|
CA356004157 rs1458957889 |
302 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356004146 rs1389860920 |
303 | E>K | No |
ClinGen gnomAD |
|
|
rs1577319061 CA356004097 |
304 | E>D | No |
ClinGen Ensembl |
|
|
rs1158825454 CA356004111 |
304 | E>K | No |
ClinGen gnomAD |
|
|
rs775882709 CA2811469 VAR_087735 |
305 | I>L | no effect on mitochondrial potassium ion transmembrane transport; it fully rescues defective proton/potassium exchange in letm1-deficient yeast [UniProt] | No |
ClinGen ExAC TOPMed gnomAD UniProt |
|
rs746420325 CA2811468 |
306 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811467 rs746420325 |
306 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811466 rs144099418 |
307 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811465 rs368250894 |
307 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356004036 rs144099418 |
307 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91275734 rs375528903 |
310 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs768305469 CA91275731 |
312 | F>S | No |
ClinGen Ensembl |
|
|
CA356003910 rs1280723340 |
313 | E>G | No |
ClinGen gnomAD |
|
|
CA2811462 rs768470262 |
319 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs746607914 CA2811461 |
320 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1320104527 CA356003806 |
321 | L>R | No |
ClinGen gnomAD |
|
|
rs376341002 CA2811459 |
323 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780025104 CA2811460 |
323 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91275699 rs758331889 |
324 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758331889 CA356003777 |
324 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs778773605 CA2811457 |
327 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1294528928 CA356003729 |
328 | A>T | No |
ClinGen TOPMed |
|
|
rs1013400250 CA91275693 |
329 | L>P | No |
ClinGen Ensembl |
|
|
CA2811453 rs760911109 COSM302547 |
337 | S>F | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2811454 rs186573116 |
337 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2811451 rs562722256 |
338 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs937966153 CA91275684 |
339 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1230755422 CA356003605 |
340 | T>I | No |
ClinGen gnomAD |
|
|
CA2811448 rs779708182 |
343 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577048812 CA2811447 |
345 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs992213619 CA91275670 |
345 | R>H | No |
ClinGen TOPMed |
|
|
rs992213619 CA356003555 |
345 | R>L | No |
ClinGen TOPMed |
|
|
CA356003530 rs1381807341 |
347 | Q>H | No |
ClinGen gnomAD |
|
|
rs1323770478 CA356003522 |
348 | L>P | No |
ClinGen TOPMed |
|
|
CA2811445 rs768239258 |
350 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1539827 CA2811443 rs539912035 |
351 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811442 rs771742149 |
353 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1390249726 CA356003470 |
354 | S>A | No |
ClinGen gnomAD |
|
|
rs745716847 CA2811441 |
355 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA91275647 rs913297439 |
357 | A>V | No |
ClinGen Ensembl |
|
|
rs867711601 CA91275646 |
358 | D>V | No |
ClinGen Ensembl |
|
|
CA2811438 rs753761356 |
359 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs373044970 CA2811439 |
359 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356001244 rs1229572183 |
361 | L>P | No |
ClinGen gnomAD |
|
|
rs1365892902 CA356001211 |
363 | A>S | No |
ClinGen TOPMed |
|
|
rs1305452910 CA356001193 |
364 | E>Q | No |
ClinGen gnomAD |
|
|
rs767005120 CA2811408 |
366 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA356001035 rs1577314213 |
367 | V>G | No |
ClinGen Ensembl |
|
|
CA2811407 rs759144341 |
368 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1460535160 CA356000935 |
370 | L>Q | No |
ClinGen gnomAD |
|
|
rs749142541 CA2811404 |
375 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2811403 rs772992134 |
377 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769768748 CA356000585 |
378 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769768748 CA2811402 |
378 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1268064099 CA356000515 |
380 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
COSM1053518 CA91269101 rs1039314263 |
382 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 383 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942979395 CA91269098 |
384 | M>L | No |
ClinGen gnomAD |
|
|
CA356000416 rs1250323233 |
384 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 384 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2811397 rs780380335 |
385 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811398 rs747208135 |
385 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA91269093 rs997585392 |
386 | A>V | No |
ClinGen TOPMed |
|
|
rs369357432 CA2811395 |
387 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757862552 CA2811393 |
389 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811391 rs766942228 |
390 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs762567157 CA2811387 |
392 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2811388 rs766125668 |
392 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773008845 CA2811386 |
393 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201808137 CA356000205 |
393 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761740968 CA2811384 |
395 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1392311634 CA356000134 |
396 | G>D | No |
ClinGen gnomAD |
|
|
rs768463193 CA2811382 |
400 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA356000057 rs768463193 |
400 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2811346 rs761339575 |
403 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1178398977 CA355999257 |
403 | D>N | No |
ClinGen TOPMed |
|
|
CA2811345 rs371744665 |
404 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763747369 CA2811344 |
405 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2811341 rs767719961 |
407 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs367940989 CA2811342 |
407 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355999202 rs1253381533 |
411 | P>S | No |
ClinGen gnomAD |
|
|
COSM1428759 rs550145512 CA2811339 |
413 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs1272251687 CA355999159 |
418 | S>F | No |
ClinGen gnomAD |
|
|
rs773634329 CA2811336 |
419 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355999153 rs1352218446 |
420 | A>T | No |
ClinGen gnomAD |
|
|
CA355999142 rs1441635674 CA355999144 |
421 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2811334 rs748715518 |
421 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811335 rs748715518 |
421 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577313037 CA355999138 |
422 | Y>S | No |
ClinGen Ensembl |
|
|
CA2811333 rs781703067 |
424 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355999118 rs1560482325 |
425 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 425 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355999120 rs1441842565 |
425 | D>Y | No |
ClinGen gnomAD |
|
|
rs1394230776 CA355999106 |
427 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1048310238 CA91268589 |
428 | S>F | No |
ClinGen TOPMed |
|
|
CA2811330 rs778382703 |
431 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1158483487 CA355999075 |
432 | Q>R | No |
ClinGen gnomAD |
|
|
rs1200569280 CA355999049 |
436 | T>A | No |
ClinGen gnomAD |
|
|
CA355999047 rs1171700153 |
436 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs147029830 CA2811328 |
439 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763979821 CA2811327 |
439 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2811326 rs755815068 |
441 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355999000 rs1292492428 |
444 | V>M | No |
ClinGen TOPMed |
|
|
CA2811298 rs768942725 |
445 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs961295904 CA355998794 |
450 | V>L | No |
ClinGen gnomAD |
|
|
rs961295904 CA91268413 |
450 | V>M | No |
ClinGen gnomAD |
|
|
CA355998769 rs772608419 |
454 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811295 rs772608419 |
454 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577312574 CA355998759 |
455 | V>G | No |
ClinGen Ensembl |
|
|
rs1308261552 CA355998754 |
456 | E>* | No |
ClinGen gnomAD |
|
|
rs748786380 CA2811294 |
456 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811292 rs769387274 |
457 | G>C | No |
ClinGen ExAC TOPMed |
|
|
rs1185967755 CA355998730 |
459 | Q>H | No |
ClinGen TOPMed |
|
|
CA2811289 rs373566432 |
463 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355998698 rs1282980682 |
464 | A>T | No |
ClinGen Ensembl |
|
|
rs1310498164 CA355998687 |
465 | K>N | No |
ClinGen gnomAD |
|
|
rs751381212 CA2811288 |
467 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91268394 rs368786399 |
469 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA91268396 rs368786399 |
469 | T>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs139115587 CA2811286 |
474 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355998617 rs765304360 |
476 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA91268387 rs1025013676 |
477 | Q>R | No |
ClinGen Ensembl |
|
|
rs200895698 CA2811282 |
479 | E>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs575710532 CA2811283 |
479 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1179069031 CA355998593 |
480 | H>Y | No |
ClinGen gnomAD |
|
|
CA91268380 rs867332327 |
481 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2811280 rs372283687 |
481 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372283687 CA2811281 |
481 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775891100 CA2811279 |
483 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 483 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141023040 CA2811277 |
488 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811276 rs552919478 |
488 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2811275 rs151087596 |
489 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA91268370 rs151087596 |
489 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113844459 CA91268366 |
490 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2811273 rs567089527 |
492 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439554622 CA355998518 |
492 | A>S | No |
ClinGen gnomAD |
|
|
rs567089527 CA2811272 |
492 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 493 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355998502 rs1233100092 |
493 | K>E | No |
ClinGen gnomAD |
|
|
CA355998497 rs1237884239 |
493 | K>N | No |
ClinGen TOPMed |
|
|
CA2811245 rs777813839 |
494 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1297421329 CA355998470 |
497 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355998472 rs1297421329 |
497 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752894460 CA91268134 |
498 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752894460 COSM1053517 CA2811242 |
498 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752894460 CA355998466 |
498 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811241 rs377025505 |
499 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs28681468 CA2811239 |
499 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs28681468 CA2811240 |
499 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355998458 rs377025505 |
499 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471587894 CA355998456 |
500 | V>M | No |
ClinGen Ensembl |
|
|
rs763544735 CA2811237 |
503 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 504 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355998433 rs1365706143 |
504 | P>T | No |
ClinGen TOPMed |
|
|
CA2811235 rs763632512 |
505 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811234 rs373392375 |
506 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355998414 rs771600943 |
507 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs200072915 CA91268117 |
507 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200072915 CA2811231 |
507 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771600943 CA2811232 |
507 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA355998407 rs1280398316 |
508 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1280398316 CA355998408 |
508 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1577311877 CA355998404 |
509 | T>A | No |
ClinGen Ensembl |
|
|
rs143969650 CA2811225 |
510 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811224 rs748336643 |
512 | Q>H | No |
ClinGen ExAC |
|
|
CA355998382 rs1227907221 |
512 | Q>R | No |
ClinGen gnomAD |
|
|
rs781520478 CA91268105 |
513 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781520478 CA2811223 |
513 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781520478 CA355998376 |
513 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355998375 rs1326485473 |
514 | E>K | No |
ClinGen TOPMed |
|
|
rs1416532134 CA355998363 |
515 | M>K | No |
ClinGen gnomAD |
|
|
CA355998366 rs1276304802 |
515 | M>V | No |
ClinGen gnomAD |
|
|
CA355998354 rs1356231763 |
516 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2811222 rs755154923 |
518 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1283029240 CA355998318 |
522 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 523 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355998303 rs1168648748 |
524 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2811220 rs780511940 |
526 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1190765891 CA355998272 |
528 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2811219 rs764236753 |
530 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355998261 rs764236753 |
530 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91268096 rs368453283 |
531 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA2811216 rs760282207 |
532 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs760767843 CA91268092 |
533 | E>K | No |
ClinGen TOPMed |
|
|
rs760767843 CA91268090 |
533 | E>Q | No |
ClinGen TOPMed |
|
|
rs752117226 CA2811215 |
534 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1196013401 CA355998236 |
535 | L>W | No |
ClinGen gnomAD |
|
|
rs757355784 CA91267425 |
537 | E>K | No |
ClinGen Ensembl |
|
|
CA355998130 rs1394202719 |
546 | D>E | No |
ClinGen gnomAD |
|
|
rs1399237574 CA355998143 |
546 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 549 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs888811138 CA91267418 |
550 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1560477494 CA355998073 |
551 | A>V | No |
ClinGen Ensembl |
|
|
CA91267416 rs201787334 |
553 | S>C | No |
ClinGen gnomAD |
|
|
CA2811191 rs183323819 |
556 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378111381 CA355998020 |
557 | E>K | No |
ClinGen gnomAD |
|
|
CA2811189 rs776780714 |
559 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355997971 rs1252131103 |
560 | K>* | No |
ClinGen gnomAD |
|
|
CA91267406 rs768341499 |
562 | L>V | No |
ClinGen TOPMed |
|
|
CA355997919 rs1385160716 |
563 | T>I | No |
ClinGen gnomAD |
|
|
rs1204647807 CA355997901 |
565 | E>Q | No |
ClinGen gnomAD |
|
|
rs1351517911 CA355997872 |
567 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs747259675 CA2811186 |
568 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA355997817 rs1235283342 |
569 | L>V | No |
ClinGen gnomAD |
|
|
CA2811185 rs775904401 |
575 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811181 rs757794150 |
581 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355996449 rs760879319 |
582 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA91266865 rs762018003 |
584 | Q>E | No |
ClinGen gnomAD |
|
|
rs115233072 CA2811167 |
587 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355996354 rs1411521694 |
587 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV000950394 rs115233072 VAR_087739 CA2811166 |
587 | K>R | benign variant; no effect on mitochondrial potassium ion transmembrane transport; it fully rescues defective proton/potassium exchange in letm1-deficient yeast [UniProt] | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
rs112963620 CA2811164 |
588 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1482432002 CA355996208 |
591 | S>* | No |
ClinGen gnomAD |
|
|
CA355995935 rs1188775838 |
598 | Y>D | No |
ClinGen gnomAD |
|
|
CA355995888 rs756578993 |
599 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2811160 rs756578993 |
599 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs894669104 CA91266853 |
600 | E>K | No |
ClinGen TOPMed |
|
|
CA355995708 rs1217377257 |
605 | S>T | No |
ClinGen gnomAD |
|
|
RCV000972711 CA2811155 rs115591912 |
606 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753637801 CA2811153 |
610 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA355995510 rs764194986 |
611 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201689850 CA2811151 CA2811150 |
611 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2811152 rs764194986 |
611 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355995475 rs1330465036 |
612 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1485854 rs1463823375 CA355995393 |
615 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2811147 rs774383747 |
617 | G>E | No |
ClinGen ExAC |
|
|
rs373654818 CA2811148 |
617 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1244590233 CA355995316 |
618 | Q>H | No |
ClinGen TOPMed |
|
|
rs1327355007 CA355995324 |
618 | Q>R | No |
ClinGen gnomAD |
|
|
CA2811145 rs763264804 |
619 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771157898 CA2811146 COSM178251 |
619 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA355995286 rs1179218843 |
620 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2811144 rs535970886 |
621 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355995178 rs1197164649 |
624 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1197164649 CA355995193 |
624 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs748591725 CA2811142 |
625 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 633 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309923348 CA355994912 |
635 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA355994916 rs1309923348 |
635 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2811140 rs771522729 |
637 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811138 rs531230067 |
638 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2811135 rs777651583 |
640 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2811133 rs556747102 |
641 | M>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA2811134 rs376355543 |
641 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457324367 CA355994764 |
641 | M>V | No |
ClinGen gnomAD |
|
|
CA91266820 rs908472279 |
642 | P>L | No |
ClinGen gnomAD |
|
|
rs537070207 CA2811131 |
643 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879062041 CA91266814 |
644 | G>E | No |
ClinGen TOPMed |
|
|
rs781117354 CA2811097 |
647 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA91266546 rs760388860 |
651 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811095 rs760388860 |
651 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147463751 CA2811093 |
654 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2811092 rs750472048 |
655 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2811088 rs764451061 |
656 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs200956240 CA2811089 |
656 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2811090 rs200956240 |
656 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355994160 rs764451061 |
656 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439887334 CA355994152 |
657 | M>V | No |
ClinGen TOPMed |
|
|
CA91266535 rs942289579 |
658 | K>R | No |
ClinGen TOPMed |
|
|
CA2811086 rs776015992 |
663 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs983598055 CA91266531 |
664 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs112919287 CA2811084 RCV000884493 |
665 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1276162107 CA355994007 |
665 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs557251556 CA2811083 |
666 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1577307686 CA355993932 |
668 | L>P | No |
ClinGen Ensembl |
|
|
rs1577307683 CA355993928 |
669 | T>P | No |
ClinGen Ensembl |
|
|
rs189361632 CA2811082 |
669 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747741893 CA2811081 |
670 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1465382664 CA355993874 |
673 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1411403777 CA355993852 |
675 | L>V | No |
ClinGen TOPMed |
|
|
CA355993840 rs1308425525 |
676 | D>G | No |
ClinGen TOPMed |
|
|
CA355993802 rs1422120467 |
678 | N>K | No |
ClinGen gnomAD |
|
|
rs1454284122 CA355993801 |
679 | K>E | No |
ClinGen gnomAD |
|
|
CA355993793 rs1373987423 |
679 | K>R | No |
ClinGen gnomAD |
|
|
rs958513410 CA91266521 |
680 | D>Y | No |
ClinGen Ensembl |
|
|
rs1327670408 CA355993743 |
683 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758263843 CA2811076 |
685 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811075 rs746007377 |
686 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811073 rs757473331 |
687 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355993685 rs1252172792 |
687 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA355993663 rs1226110586 |
688 | L>P | No |
ClinGen TOPMed |
|
|
rs1199053402 CA355993672 |
688 | L>V | No |
ClinGen gnomAD |
|
|
rs764388123 CA2811071 |
689 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55857869 CA91266042 |
695 | V>A | No |
ClinGen Ensembl |
|
|
CA2811042 rs775361923 |
695 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 696 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2811041 rs771812821 |
697 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs141679322 CA2811040 RCV000886515 |
697 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1208396107 | 698 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2811039 rs774320886 |
698 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1273644991 CA355992577 |
704 | T>I | No |
ClinGen gnomAD |
|
|
rs765944262 CA2811036 |
705 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781709712 CA2811033 |
711 | V>A | No |
ClinGen ExAC |
|
|
rs1220465575 CA355992443 |
711 | V>L | No |
ClinGen TOPMed |
|
|
rs1560471926 CA355992387 |
712 | A>V | No |
ClinGen Ensembl |
|
|
CA355992322 rs1577306742 |
715 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 716 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355992048 rs1447987492 |
721 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 722 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143311273 CA2811027 |
726 | A>P | No |
ClinGen ESP ExAC |
|
|
CA91266007 rs966187882 |
728 | E>D | No |
ClinGen TOPMed |
|
|
rs763447660 CA2811025 |
729 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs752240244 CA2811023 |
730 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2811022 rs577892044 |
730 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA355991599 rs1458504712 |
733 | E>A | No |
ClinGen TOPMed |
|
|
CA2811021 rs759365929 |
734 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs762737209 CA2811019 |
735 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA355991554 rs762737209 |
735 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1053514 rs762737209 CA2811018 |
735 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs377358241 CA2811017 |
736 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355991529 rs1364391460 |
736 | E>Q | No |
ClinGen TOPMed |
|
|
CA91265983 rs138288054 |
737 | V>L | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 739 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with O95202
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| calcium:proton antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Ca2+(in) + H+(out) = Ca2+(out) + H+(in). |
| ribosome binding | Binding to a ribosome. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium export from the mitochondrion | A process in which a calcium ion (Ca2+) is transported out of the mitochondrial matrix, and into the cytosol. |
| cellular metal ion homeostasis | Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. |
| cristae formation | The assembly of cristae, the inwards folds of the inner mitochondrial membrane. |
| mitochondrial calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. |
| mitochondrial calcium ion transmembrane transport | The process in which a calcium ion (Ca2+) is transported across a mitochondrial membrane, into or out of the mitochondrion. |
| negative regulation of mitochondrial calcium ion concentration | Any process that decreases the concentration of calcium ions in mitochondria. |
| protein hexamerization | The formation of a protein hexamer, a macromolecular structure consisting of six noncovalently associated identical or nonidentical subunits. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of cellular hyperosmotic salinity response | Any process that modulates the frequency, rate or extent of cellular hyperosmotic salinity response. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q06493 | YLH47 | LETM1 domain-containing protein YLH47, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q0VCA3 | LETM1 | Mitochondrial proton/calcium exchanger protein | Bos taurus (Bovine) | PR |
| Q5ZK33 | LETM1 | Mitochondrial proton/calcium exchanger protein | Gallus gallus (Chicken) | PR |
| Q2VYF4 | LETM2 | LETM1 domain-containing protein LETM2, mitochondrial | Homo sapiens (Human) | PR |
| Q7TNU7 | Letm2 | LETM1 domain-containing protein LETM2, mitochondrial | Mus musculus (Mouse) | PR |
| Q9Z2I0 | Letm1 | Mitochondrial proton/calcium exchanger protein | Mus musculus (Mouse) | PR |
| Q5PQQ5 | Letm2 | LETM1 domain-containing protein LETM2, mitochondrial | Rattus norvegicus (Rat) | PR |
| Q5XIN6 | Letm1 | Mitochondrial proton/calcium exchanger protein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASILLRSCR | GRAPARLPPP | PRYTVPRGSP | GDPAHLSCAS | TLGLRNCLNV | PFGCCTPIHP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VYTSSRGDHL | GCWALRPECL | RIVSRAPWTS | TSVGFVAVGP | QCLPVRGWHS | SRPVRDDSVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EKSLKSLKDK | NKKLEEGGPV | YSPPAEVVVK | KSLGQRVLDE | LKHYYHGFRL | LWIDTKIAAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MLWRILNGHS | LTRRERRQFL | RICADLFRLV | PFLVFVVVPF | MEFLLPVAVK | LFPNMLPSTF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ETQSLKEERL | KKELRVKLEL | AKFLQDTIEE | MALKNKAAKG | SATKDFSVFF | QKIRETGERP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SNEEIMRFSK | LFEDELTLDN | LTRPQLVALC | KLLELQSIGT | NNFLRFQLTM | RLRSIKADDK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LIAEEGVDSL | NVKELQAACR | ARGMRALGVT | EDRLRGQLKQ | WLDLHLHQEI | PTSLLILSRA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MYLPDTLSPA | DQLKSTLQTL | PEIVAKEAQV | KVAEVEGEQV | DNKAKLEATL | QEEAAIQQEH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| REKELQKRSE | VAKDFEPERV | VAAPQRPGTE | PQPEMPDTVL | QSETLKDTAP | VLEGLKEEEI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TKEEIDILSD | ACSKLQEQKK | SLTKEKEELE | LLKEDVQDYS | EDLQEIKKEL | SKTGEEKYVE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ESKASKRLTK | RVQQMIGQID | GLISQLEMDQ | QAGKLAPANG | MPTGENVISV | AELINAMKQV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KHIPESKLTS | LAAALDENKD | GKVNIDDLVK | VIELVDKEDV | HISTSQVAEI | VATLEKEEKV |
| 730 | |||||
| EEKEKAKEKA | EKEVAEVKS |