O14832
PR
Gene name |
PHYH (PAHX) |
Protein name |
Phytanoyl-CoA dioxygenase, peroxisomal |
Names |
Phytanic acid oxidase, Phytanoyl-CoA alpha-hydroxylase, PhyH |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5264 |
EC number |
1.14.11.18: With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
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
2 structures for O14832
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2A1X | X-ray | 250 A | A | 31-338 | PDB |
| AF-O14832-F1 | Predicted | AlphaFoldDB |
348 variants for O14832
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1554785878 RCV000670959 |
1 | M>missing | Phytanic acid storage disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001103992 RCV001238159 CA5412488 rs778011598 |
28 | H>R | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA154245 rs28938169 RCV000117911 VAR_017482 RCV000008020 RCV000306854 |
29 | P>S | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs730882058 RCV000008021 |
55 | L>missing | Refsum disease, adult, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886046831 CA10635282 RCV000386294 |
59 | K>T | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs145404396 CA5412447 RCV000755126 RCV003130029 RCV001404622 RCV001731916 |
82 | R>G | Phytanic acid storage disease Nonsyndromic cleft lip palate [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs886046830 RCV002520544 CA10634950 RCV000352671 |
82 | R>Q | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs145404396 COSM1262128 RCV002484260 RCV001230809 CA5412448 |
82 | R>W | Phytanic acid storage disease oesophagus large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_018619 | 83 | N>Y | RD [UniProt] | Yes | UniProt |
|
CA5412423 RCV002551509 RCV001042153 rs375508574 |
97 | G>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779724199 RCV000494522 RCV001107607 CA5412404 |
118 | I>M | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5412402 RCV000319288 RCV000960582 rs34571629 |
119 | T>M | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_017483 | 173 | P>S | RD [UniProt] | Yes | UniProt |
|
rs1835617888 RCV001074766 |
173 | P>T | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_018631 | 175 | H>R | RD [UniProt] | Yes | UniProt |
|
rs28939672 RCV000008024 CA118906 VAR_017484 |
176 | Q>K | Refsum disease, adult, 1 RD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs770262329 VAR_017485 CA5412325 RCV001074765 RCV001092476 |
177 | D>G | Retinal dystrophy RD; total loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs563392018 CA5412314 RCV002544629 RCV001302435 |
189 | I>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_012980 | 192 | A>AA | RD [UniProt] | Yes | UniProt |
|
CA5412312 RCV000377458 rs751660253 COSM683981 RCV000483319 |
192 | A>T | lung Phytanic acid storage disease Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_017486 | 193 | W>R | RD [UniProt] | Yes | UniProt |
|
RCV000320474 CA5412310 RCV001206588 rs141554572 |
194 | T>M | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5412307 rs760020856 RCV001055093 RCV002553789 |
196 | M>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_017487 | 197 | E>Q | RD [UniProt] | Yes | UniProt |
| VAR_017488 | 199 | I>F | RD [UniProt] | Yes | UniProt |
|
rs143957922 RCV000487565 RCV000267540 CA5412303 |
201 | R>G | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000359852 CA5412302 RCV002520543 RCV000430932 rs201979258 |
202 | N>K | Phytanic acid storage disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000008025 VAR_017489 COSM916259 rs104894173 CA118907 |
204 | G>S | Refsum disease, adult, 1 Variant assessed as Somatic; 0.0 impact. endometrium RD; total loss of activity [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP |
|
rs755838466 RCV001861809 RCV000672179 |
208 | V>missing | Phytanic acid storage disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001700041 rs7901902 RCV000886087 RCV000268787 VAR_050528 CA5412291 |
215 | G>S | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_017490 RCV001320360 rs767216891 CA5412288 |
220 | H>Y | RD [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA5412260 RCV001699508 RCV002555045 RCV001106948 rs201936962 |
227 | G>W | Phytanic acid storage disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5412252 rs750819521 RCV002535632 RCV000778275 |
235 | G>R | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000665931 RCV001258288 VAR_017491 RCV000179914 RCV000755125 RCV000950185 CA203488 rs62619919 |
245 | R>Q | Phytanic acid storage disease Vitamin D-dependent rickets type II with alopecia Nonsyndromic cleft lip palate [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1835475877 RCV001862859 RCV001106947 |
247 | H>Y | Phytanic acid storage disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797045100 RCV000190614 |
256 | V>missing | Phytanic acid storage disease [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_017492 rs1211564430 CA376034166 |
257 | F>S | RD [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
RCV000008022 rs104894179 VAR_005525 CA118905 |
269 | N>H | Refsum disease, adult, 1 RD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104894174 CA118908 RCV001851728 RCV000008026 VAR_017493 |
275 | R>Q | Refsum disease, adult, 1 RD; total loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000665657 RCV000505105 VAR_005526 RCV002426496 CA118904 rs104894178 RCV000008018 RCV000255609 |
275 | R>W | Phytanic acid storage disease Refsum disease, adult, 1 Retinitis pigmentosa Inborn genetic diseases Retinitis pigmentosa (rp) RD; total loss of activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs771288405 CA5412219 RCV003166844 RCV001318433 |
283 | A>T | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs367851769 RCV000883928 CA5412178 RCV000314971 |
327 | R>Q | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200245065 RCV001038360 RCV002551414 CA5412173 |
331 | V>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5412171 RCV000591045 RCV000401804 rs758218321 |
337 | N>D | Phytanic acid storage disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000755124 RCV000513200 rs566116760 |
337 | N>H | Nonsyndromic cleft lip palate [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1156869662 CA376038523 |
2 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA203286398 rs1040127062 |
2 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA376038528 rs1040127062 |
2 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs928481094 CA203286396 |
3 | Q>* | No |
ClinGen Ensembl |
|
|
CA376038516 rs1452997131 |
3 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376038490 rs1364275922 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs746485843 RCV001247213 CA203286392 |
7 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA376038463 rs1183779938 |
8 | A>S | No |
ClinGen gnomAD |
|
|
CA376038454 rs1196837590 |
9 | R>G | No |
ClinGen TOPMed |
|
|
CA203286390 rs767764296 |
9 | R>P | No |
ClinGen Ensembl |
|
|
CA376038441 rs1438079670 |
10 | L>Q | No |
ClinGen TOPMed |
|
|
CA376038395 rs1220122195 |
13 | V>D | No |
ClinGen TOPMed |
|
|
CA376038397 rs1361950127 |
13 | V>F | No |
ClinGen gnomAD |
|
|
rs945890557 CA376038257 |
19 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA203286383 rs945890557 |
19 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs913080422 CA203286382 |
20 | P>L | No |
ClinGen TOPMed |
|
|
rs1199703535 CA376038244 |
21 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA376038232 COSM4144485 rs1260436434 |
23 | G>E | thyroid [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA5412510 rs750212437 |
23 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs781426377 CA5412509 |
24 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376038231 rs781426377 |
24 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261804897 CA376038224 |
25 | V>I | Variant assessed as Somatic; 0.0001409 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376038174 rs752742972 |
31 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs752742972 CA5412487 |
31 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1193207427 CA376038156 |
34 | I>T | No |
ClinGen TOPMed |
|
|
rs1014615805 CA203285247 |
37 | A>D | No |
ClinGen gnomAD |
|
|
rs1588519299 CA376038141 |
37 | A>T | No |
ClinGen Ensembl |
|
|
rs1272031469 CA376038135 |
38 | S>G | No |
ClinGen gnomAD |
|
|
rs1425939786 CA376038133 |
38 | S>N | No |
ClinGen TOPMed |
|
|
rs759970314 CA5412486 |
42 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759970314 CA5412485 |
42 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371465545 CA5412484 |
42 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376038099 rs1454438150 |
43 | Q>* | No |
ClinGen gnomAD |
|
|
rs1397853687 CA376038087 |
44 | F>L | No |
ClinGen gnomAD |
|
|
CA376038085 rs1384315216 |
45 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA376038083 rs1384315216 |
45 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA203283590 rs141952441 |
46 | Y>C | No |
ClinGen ESP TOPMed |
|
|
CA5412466 rs754281074 |
47 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376037718 rs1234884054 |
47 | T>P | No |
ClinGen gnomAD |
|
|
CA5412465 RCV001062900 rs767030794 |
50 | N>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1269727332 CA376037697 |
50 | N>S | No |
ClinGen gnomAD |
|
|
rs756504018 CA5412464 |
51 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA376037685 rs1283450349 |
52 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5412461 rs775279867 RCV001054594 |
54 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs775279867 CA5412462 |
54 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM276743 CA5412460 rs764637574 |
58 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 59 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5412459 rs759133541 |
60 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1340452968 CA376037636 |
60 | F>L | No |
ClinGen gnomAD |
|
|
rs1344010115 CA376037596 |
65 | G>R | No |
ClinGen gnomAD |
|
|
rs746748064 CA5412456 |
68 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA234552 rs143820757 RCV000153696 |
69 | I>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5412455 rs771973307 |
72 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA376037543 rs1480253198 |
73 | V>A | No |
ClinGen gnomAD |
|
|
CA376037541 rs1430210913 |
74 | P>T | No |
ClinGen gnomAD |
|
|
rs141855372 CA5412454 |
76 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs180913758 CA5412452 |
77 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554785113 CA376037506 RCV000592550 |
79 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5412450 rs369205198 RCV000732159 |
80 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756698271 CA5412449 |
80 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376037464 rs1171283470 |
84 | E>K | No |
ClinGen gnomAD |
|
|
rs1431689348 CA376037452 |
85 | F>S | No |
ClinGen gnomAD |
|
|
rs1588516253 CA376037430 |
87 | K>R | No |
ClinGen Ensembl |
|
|
CA376037396 rs1218295820 |
89 | C>F | No |
ClinGen TOPMed |
|
|
CA376037368 rs1182917798 |
91 | K>R | No |
ClinGen gnomAD |
|
|
rs781746206 CA5412427 |
92 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5412425 rs751977380 |
95 | P>S | No |
ClinGen ExAC |
|
| TCGA novel | 99 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564427906 CA376037243 |
100 | V>G | No |
ClinGen Ensembl |
|
|
CA5412421 rs753555104 |
100 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376037252 rs753555104 |
100 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376037228 rs765864318 CA5412420 |
101 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA203283080 rs878987992 |
101 | M>V | No |
ClinGen Ensembl |
|
|
CA376037218 rs1290322799 |
102 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA376037221 rs1290322799 |
102 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376037188 rs1360740831 |
104 | V>A | No |
ClinGen gnomAD |
|
|
CA376037170 rs1460092273 |
106 | I>L | No |
ClinGen gnomAD |
|
|
CA5412418 rs750331730 |
106 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1298954728 COSM916265 CA376037143 |
107 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs865834105 CA203283054 |
109 | S>F | No |
ClinGen Ensembl |
|
|
rs768690285 CA5412414 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV001221766 rs775912561 CA5412412 |
112 | A>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA376037068 rs1156732460 |
112 | A>V | No |
ClinGen gnomAD |
|
|
CA5412410 rs745983440 |
113 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5412409 rs781504804 |
114 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5412408 rs771484754 |
114 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs747271385 CA5412407 |
115 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778195858 CA5412406 |
117 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5412405 rs758824248 |
118 | I>F | No |
ClinGen ExAC gnomAD |
|
|
RCV001307232 CA203283013 rs1032242814 |
118 | I>T | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs373346799 CA203282988 |
120 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563490832 CA203282984 |
121 | V>I | No |
ClinGen 1000Genomes |
|
| TCGA novel | 124 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435262914 RCV001236811 |
126 | E>missing | No |
ClinVar dbSNP |
|
|
CA203282979 rs150001161 |
126 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA376036899 rs1272687602 |
127 | D>G | No |
ClinGen TOPMed |
|
|
CA5412399 rs761810966 |
129 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5412398 rs751515293 |
130 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203282972 rs751515293 |
130 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376036875 rs1452889366 |
131 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs367762012 CA5412396 |
133 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161050068 CA376036859 |
133 | Y>S | No |
ClinGen gnomAD |
|
|
CA5412395 RCV001063690 rs775822544 |
134 | C>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs897016543 CA203282959 |
135 | T>A | No |
ClinGen Ensembl |
|
|
rs770170910 RCV001226986 |
135 | T>I | No |
ClinVar dbSNP |
|
|
rs770170910 CA5412394 |
135 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA376036842 rs1250910502 |
136 | L>V | No |
ClinGen TOPMed |
|
|
CA203282940 rs938466163 |
138 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1588513949 CA376036530 |
140 | L>V | No |
ClinGen Ensembl |
|
|
rs773734063 CA5412368 |
141 | K>E | No |
ClinGen ExAC |
|
|
rs1588513935 CA376036507 |
142 | Y>H | No |
ClinGen Ensembl |
|
|
rs1564426198 CA376036492 |
143 | V>M | No |
ClinGen Ensembl |
|
|
rs772592954 CA5412367 |
144 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376036407 rs1450273769 RCV001070878 |
147 | T>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA5412366 rs748450500 |
147 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376036392 rs1392704631 |
148 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376036368 rs1337094816 |
150 | N>S | No |
ClinGen gnomAD |
|
|
rs1337094816 RCV001240836 |
150 | N>T | No |
ClinVar dbSNP |
|
|
rs1415852980 CA376036342 |
152 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774698527 CA5412365 |
153 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs959579723 CA203281749 |
154 | M>V | No |
ClinGen TOPMed |
|
|
CA376036272 rs1440122060 |
156 | T>I | No |
ClinGen TOPMed |
|
|
CA5412364 rs769073461 |
157 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199741273 CA203281741 |
158 | L>W | No |
ClinGen Ensembl |
|
|
CA5412362 rs150982538 |
159 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs560532343 CA203281733 |
161 | K>N | No |
ClinGen Ensembl |
|
|
rs374704226 CA5412361 |
163 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376035925 rs1313171172 |
167 | K>E | No |
ClinGen gnomAD |
|
|
CA376035913 rs1564424302 |
167 | K>M | No |
ClinGen Ensembl |
|
|
rs1002598201 CA203279799 |
169 | T>M | No |
ClinGen TOPMed |
|
|
rs1247299635 CA376035853 |
171 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5412329 RCV000994355 COSM916263 rs752028596 |
171 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA376035848 rs752028596 |
171 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA376035858 rs1247299635 |
171 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1430438246 CA376035776 |
175 | H>Q | No |
ClinGen TOPMed |
|
|
CA376035772 rs28939672 |
176 | Q>* | No |
ClinGen TOPMed |
|
|
CA5412326 rs775730332 |
176 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419027168 CA376035724 |
179 | H>N | No |
ClinGen gnomAD |
|
|
rs1280965525 CA376035698 |
180 | Y>S | No |
ClinGen gnomAD |
|
|
rs773050136 CA5412323 |
182 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5412322 rs771679396 |
182 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773050136 CA5412324 |
182 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376035678 rs773050136 |
182 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139392108 CA5412320 RCV001209925 |
183 | F>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 184 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5412319 rs768495897 |
185 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5412318 rs749048954 |
186 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs201383447 CA203279708 |
186 | S>R | No |
ClinGen ExAC gnomAD |
|
|
COSM916262 rs755990885 CA5412316 |
187 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001205976 CA376035588 rs1227427780 |
189 | I>F | No |
ClinGen ClinVar TOPMed dbSNP |
|
| TCGA novel | 189 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000981764 CA5412313 rs146190978 |
190 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376035551 rs1054747084 |
191 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA376035547 rs751660253 |
192 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376035529 rs1448778830 |
193 | W>* | No |
ClinGen gnomAD |
|
|
CA376035513 RCV001046912 rs141554572 |
194 | T>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5412308 rs765498995 |
195 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs760020856 CA376035497 |
196 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA376035490 rs1564424106 |
196 | M>T | No |
ClinGen Ensembl |
|
|
rs772962267 CA5412306 |
197 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA203279666 rs200311519 |
197 | E>K | No |
ClinGen gnomAD |
|
|
CA376035466 rs1212274264 |
198 | H>N | No |
ClinGen gnomAD |
|
|
COSM683982 CA376035439 rs1407156746 |
199 | I>M | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA376035428 rs148602565 |
200 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148602565 CA5412305 |
200 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148602565 CA376035430 |
200 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376035417 rs1436380043 |
201 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376035419 rs1436380043 |
201 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM1128103 rs1436380043 CA376035421 |
201 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM916260 rs143957922 CA5412304 |
201 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775543889 CA5412301 |
203 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373046465 CA5412299 |
205 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA376035341 rs1588510934 |
207 | V>G | No |
ClinGen Ensembl |
|
|
rs555663097 CA5412298 RCV001248187 |
207 | V>I | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1389557837 CA376035318 |
209 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747023529 CA5412295 |
211 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs758554958 CA5412294 |
213 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs753115080 CA5412293 |
214 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203279609 rs763972214 |
214 | K>M | No |
ClinGen Ensembl |
|
|
rs763972214 CA376035257 |
214 | K>R | No |
ClinGen Ensembl |
|
|
rs1588510843 CA376035237 |
216 | S>P | No |
ClinGen Ensembl |
|
|
rs1588510843 CA376035239 |
216 | S>T | No |
ClinGen Ensembl |
|
|
rs200627042 CA5412290 |
217 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5412287 rs774107404 |
220 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5412285 rs763486532 |
221 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1380248613 CA376035149 |
223 | P>R | No |
ClinGen gnomAD |
|
|
CA376035143 rs997483861 |
224 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs997483861 CA203279562 |
224 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs995220629 CA203276397 |
227 | G>A | No |
ClinGen gnomAD |
|
|
rs995220629 CA376034543 |
227 | G>E | No |
ClinGen gnomAD |
|
|
CA5412262 rs201936962 RCV001042183 CA5412261 |
227 | G>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA203276388 rs768919554 RCV001218757 |
228 | G>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5412257 rs768919554 |
228 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768919554 CA5412258 |
228 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs767403321 | 229 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749786269 CA5412255 |
231 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA376034476 rs1223347540 |
232 | M>T | No |
ClinGen gnomAD |
|
|
CA5412254 rs780743090 |
234 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1296265643 CA376034393 |
238 | D>N | No |
ClinGen gnomAD |
|
|
rs142720126 CA376034364 |
239 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752334658 CA203276360 |
239 | Y>C | No |
ClinGen gnomAD |
|
|
CA203276347 rs947818030 |
240 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs373512465 COSM916257 CA5412251 |
240 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764704942 CA5412249 RCV001306139 |
241 | E>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5412250 rs752358705 RCV001351714 |
241 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA376034294 rs759088006 |
244 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759088006 CA5412248 |
244 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753737115 CA5412247 |
245 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435043757 CA376034271 |
246 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951944471 CA203276323 |
247 | H>R | No |
ClinGen TOPMed |
|
|
CA5412246 rs760332267 |
249 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5412245 rs773067426 |
252 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139329047 CA5412243 COSM241131 RCV001212402 |
254 | D>N | prostate [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs139329047 CA376034187 |
254 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5412242 rs774759310 |
255 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349650193 CA376034179 |
255 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1835474540 RCV001325758 |
258 | F>V | No |
ClinVar dbSNP |
|
|
rs1251773744 CA376034152 |
259 | H>Y | No |
ClinGen gnomAD |
|
|
rs934688734 CA203276257 |
260 | P>L | No |
ClinGen Ensembl |
|
|
rs1226629214 CA376034141 RCV001204186 |
261 | L>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA376034139 rs1324697721 |
261 | L>S | No |
ClinGen gnomAD |
|
|
rs978055214 CA203276251 |
265 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1324188528 CA376034104 |
266 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1449413938 CA376034101 |
267 | G>R | No |
ClinGen gnomAD |
|
|
CA376034070 rs1564421203 |
271 | T>N | No |
ClinGen Ensembl |
|
|
CA5412239 rs780657110 |
273 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770346220 CA5412238 |
273 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1462384559 CA376034038 |
276 | K>N | No |
ClinGen TOPMed |
|
|
CA203276238 rs1055015202 |
276 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA376034042 RCV001345934 rs1454371975 |
276 | K>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA376051681 rs1211539675 RCV001092475 |
277 | A>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA376051687 rs1472419286 COSM683986 |
277 | A>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA203334324 rs947056017 |
279 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1588506054 CA376051660 |
279 | S>P | No |
ClinGen Ensembl |
|
|
rs1057520786 RCV000443182 CA16605832 |
280 | C>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA376051646 rs1278291229 |
280 | C>Y | No |
ClinGen gnomAD |
|
|
rs373839944 CA5412221 |
282 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM916255 rs538686726 RCV001245104 CA5412216 |
286 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1675062 rs538686726 CA5412217 |
286 | D>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 287 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5412214 rs779606174 |
288 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755633033 CA5412213 |
290 | I>T | No |
ClinGen ExAC |
|
|
rs1835399890 RCV001203937 |
291 | D>A | No |
ClinVar dbSNP |
|
|
CA376051502 rs1414721463 |
291 | D>N | No |
ClinGen gnomAD |
|
|
CA376051486 rs1310532591 |
292 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376051484 rs1310532591 |
292 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5412211 rs767383443 |
294 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1276333112 CA376051456 |
294 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 297 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376051421 rs1157670907 |
297 | Q>R | No |
ClinGen gnomAD |
|
|
CA376051387 rs1468367622 |
300 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA203334278 rs866756424 |
301 | E>D | No |
ClinGen Ensembl |
|
|
CA203334283 rs751411612 |
301 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751411612 CA5412208 |
301 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142542422 CA5412207 |
303 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148073878 CA5412206 |
304 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470521507 CA376051322 |
305 | V>A | No |
ClinGen TOPMed |
|
|
CA376051325 rs1234838223 |
305 | V>L | No |
ClinGen TOPMed |
|
|
CA5412204 rs775910876 COSM348208 |
306 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs534106740 CA203334254 |
307 | I>T | No |
ClinGen gnomAD |
|
|
rs1283777687 CA376051294 |
308 | A>T | No |
ClinGen gnomAD |
|
|
rs1564419332 CA376051287 |
308 | A>V | No |
ClinGen Ensembl |
|
|
CA5412203 rs765337089 |
310 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337328957 CA376051234 |
312 | F>S | No |
ClinGen gnomAD |
|
|
CA203334244 rs1016317523 |
313 | G>E | No |
ClinGen Ensembl |
|
|
CA376051210 rs777147459 |
314 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5412201 rs777147459 |
314 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203334238 rs973937078 |
315 | E>A | No |
ClinGen TOPMed |
|
|
rs1330401531 CA376051193 |
316 | N>Y | No |
ClinGen TOPMed |
|
|
CA5412199 rs111664132 |
317 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203334225 rs773564976 |
317 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5412197 rs148951882 |
318 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779617040 CA5412196 |
320 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5412194 rs769303089 |
321 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376050485 rs1588504517 |
322 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 323 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5412181 rs145020360 |
325 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193268888 CA376050433 |
325 | M>T | No |
ClinGen gnomAD |
|
|
rs145020360 CA5412182 |
325 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs546257524 CA5412180 |
327 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs367851769 CA5412179 |
327 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376050403 rs1205748629 |
328 | A>T | No |
ClinGen gnomAD |
|
|
CA5412177 rs769348267 |
329 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5412176 rs144085594 |
329 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376050386 rs144085594 |
329 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001214113 rs144085594 COSM276742 CA5412175 |
329 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA203332977 rs961997409 |
330 | L>V | No |
ClinGen TOPMed |
|
|
rs200245065 CA376050370 |
331 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777898707 COSM3414826 CA5412172 |
335 | R>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1424234188 CA376050304 |
336 | T>I | No |
ClinGen gnomAD |
|
|
CA376050309 rs1272487282 |
336 | T>P | No |
ClinGen TOPMed |
|
|
CA5412170 rs140326632 |
337 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269704659 CA376050293 |
337 | N>S | No |
ClinGen TOPMed |
1 associated diseases with O14832
[MIM: 266500]: Refsum disease (RD)
A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment. {ECO:0000269|PubMed:10709665, ECO:0000269|PubMed:10767344, ECO:0000269|PubMed:14974078, ECO:0000269|PubMed:9326939, ECO:0000269|PubMed:9326940}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment. {ECO:0000269|PubMed:10709665, ECO:0000269|PubMed:10767344, ECO:0000269|PubMed:14974078, ECO:0000269|PubMed:9326939, ECO:0000269|PubMed:9326940}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for O14832
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O14832 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.11.18 | With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
| Subcellular Localization |
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| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| 9+0 non-motile cilium | A non-motile cilium where the axoneme has a ring of nine outer microtubule doublets but no central microtubules (and is therefore called a 9+0 axoneme). |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| peroxisomal matrix | The volume contained within the membranes of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| carboxylic acid binding | Binding to a carboxylic acid, an organic acid containing one or more carboxyl (COOH) groups or anions (COO-). |
| ferrous iron binding | Binding to a ferrous iron ion, Fe(II). |
| L-ascorbic acid binding | Binding to L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species. |
| phytanoyl-CoA dioxygenase activity | Catalysis of the reaction: 2-oxoglutarate + O(2) + phytanoyl-CoA = 2-hydroxyphytanoyl-CoA + CO(2) + succinate. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| 2-oxobutyrate catabolic process | The chemical reactions and pathways resulting in the breakdown of 2-oxobutyrate, the anion of the organic acid 2-oxobutyric acid, which contains a ketone group on carbon 2. |
| 2-oxoglutarate metabolic process | The chemical reactions and pathways involving oxoglutarate, the dianion of 2-oxoglutaric acid. It is a key constituent of the TCA cycle and a key intermediate in amino-acid metabolism. |
| fatty acid alpha-oxidation | A metabolic pathway by which 3-methyl branched fatty acids are degraded. These compounds are not degraded by the normal peroxisomal beta-oxidation pathway, because the 3-methyl blocks the dehydrogenation of the hydroxyl group by hydroxyacyl-CoA dehydrogenase. The 3-methyl branched fatty acid is converted in several steps to pristenic acid, which can then feed into the beta-oxidative pathway. |
| isoprenoid metabolic process | The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. |
| methyl-branched fatty acid metabolic process | The chemical reactions and pathways involving methyl-branched fatty acids, aliphatic monocarboxylic acids with methyl branches on the main chain. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEQLRAAARL | QIVLGHLGRP | SAGAVVAHPT | SGTISSASFH | PQQFQYTLDN | NVLTLEQRKF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YEENGFLVIK | NLVPDADIQR | FRNEFEKICR | KEVKPLGLTV | MRDVTISKSE | YAPSEKMITK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VQDFQEDKEL | FRYCTLPEIL | KYVECFTGPN | IMAMHTMLIN | KPPDSGKKTS | RHPLHQDLHY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FPFRPSDLIV | CAWTAMEHIS | RNNGCLVVLP | GTHKGSLKPH | DYPKWEGGVN | KMFHGIQDYE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ENKARVHLVM | EKGDTVFFHP | LLIHGSGQNK | TQGFRKAISC | HFASADCHYI | DVKGTSQENI |
| 310 | 320 | 330 | |||
| EKEVVGIAHK | FFGAENSVNL | KDIWMFRARL | VKGERTNL |