P48651
PR
Gene name |
PTDSS1 (KIAA0024, PSSA) |
Protein name |
Phosphatidylserine synthase 1 |
Names |
PSS-1, PtdSer synthase 1, Serine-exchange enzyme I |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9791 |
EC number |
2.7.8.29: Transferases for other substituted phosphate groups |
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 P48651
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P48651-F1 | Predicted | AlphaFoldDB |
291 variants for P48651
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs149279242 RCV002537584 CA4816507 RCV000905296 |
72 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1810593860 RCV001196358 |
83 | I>L | Lenz-Majewski hyperostosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371754196 rs1131691429 RCV000493041 RCV001253177 |
95 | R>Q | Lenz-Majewski hyperostosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371754319 RCV001252718 rs1275425796 |
112 | F>V | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_070987 CA149739 RCV000083282 rs587777090 |
265 | L>P | Lenz-Majewski hyperostosis syndrome LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000083281 VAR_070988 CA149738 rs587777089 |
269 | P>S | Lenz-Majewski hyperostosis syndrome LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1811091915 RCV001328789 |
283 | S>F | Lenz-Majewski hyperostosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA371757379 rs1586200380 RCV000984910 |
311 | F>C | Lenz-Majewski hyperostosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA371757431 RCV000988099 rs1586200389 |
318 | P>L | Lenz-Majewski hyperostosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777088 RCV000083280 CA149737 VAR_070989 |
353 | Q>R | Lenz-Majewski hyperostosis syndrome LMHD; does not affect protein levels; increases the rate of phosphatidylserine synthesis; profoundly impairs negative feedback enzyme regulation by phosphatidylserine [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA371752318 rs1373990657 |
2 | A>E | No |
ClinGen gnomAD |
|
|
rs748205802 CA4816456 |
3 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11545844 CA181490581 |
4 | C>S | No |
ClinGen Ensembl |
|
|
CA371752350 rs1172182497 |
5 | V>M | No |
ClinGen gnomAD |
|
|
CA371752367 rs1394655724 |
6 | G>E | No |
ClinGen gnomAD |
|
|
rs769720914 CA4816457 |
8 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371752392 rs1435608646 |
8 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs772997528 CA4816458 |
9 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4816459 rs772997528 |
9 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs144822699 CA4816460 |
14 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371752479 rs1326957547 |
15 | V>A | No |
ClinGen gnomAD |
|
|
rs1436473798 CA371752492 |
16 | N>S | No |
ClinGen TOPMed |
|
|
CA371752506 rs1436935923 |
17 | Y>C | No |
ClinGen gnomAD |
|
|
rs759201091 CA4816462 |
18 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs767313221 CA4816463 |
19 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563555915 CA371752551 |
20 | H>R | No |
ClinGen Ensembl |
|
|
rs760082933 CA4816465 |
23 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA371752590 rs1348007073 |
23 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371752624 rs1262976573 |
25 | N>D | No |
ClinGen gnomAD |
|
|
rs763702650 CA181490600 |
26 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4816466 rs763702650 |
26 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586177025 CA371752689 |
29 | V>G | No |
ClinGen Ensembl |
|
|
CA371752728 rs1180208517 |
32 | I>V | No |
ClinGen TOPMed |
|
|
CA371752743 rs751925742 |
33 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4816470 rs751925742 |
33 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281123923 CA371752783 |
36 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755150411 CA4816471 |
38 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4816473 rs748448029 |
39 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371752874 rs1370053835 |
43 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 49 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441176979 CA371752969 |
50 | I>T | No |
ClinGen gnomAD |
|
|
rs1240153836 CA371752964 |
50 | I>V | No |
ClinGen TOPMed |
|
|
rs771000792 CA4816477 |
54 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA4816478 rs138669657 |
55 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371753054 rs1393929603 |
57 | A>D | No |
ClinGen TOPMed |
|
|
CA371753051 rs1212419473 |
57 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA181495083 rs770990297 |
63 | S>F | No |
ClinGen Ensembl |
|
|
CA371753120 rs1293872968 |
65 | P>S | No |
ClinGen TOPMed |
|
|
rs1586182327 CA371753146 |
68 | N>K | No |
ClinGen Ensembl |
|
|
CA371753149 rs1412317073 |
69 | I>V | No |
ClinGen gnomAD |
|
|
rs548182662 CA4816506 |
71 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356614934 CA371753169 |
71 | R>S | No |
ClinGen gnomAD |
|
|
rs112204704 CA181495088 |
73 | I>V | No |
ClinGen Ensembl |
|
|
CA4816508 rs767755619 |
74 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200857021 CA4816510 |
75 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200857021 CA4816509 |
75 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371753194 rs1228621341 |
76 | V>A | No |
ClinGen gnomAD |
|
|
rs1586182367 CA371753200 |
77 | I>T | No |
ClinGen Ensembl |
|
|
CA371753209 rs1251071007 |
78 | F>L | No |
ClinGen gnomAD |
|
|
CA371753244 rs1276967878 |
83 | I>T | No |
ClinGen gnomAD |
|
|
CA371753252 rs1453664601 |
84 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs536953263 CA4816511 |
88 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1258371359 CA371753291 |
90 | N>S | No |
ClinGen gnomAD |
|
|
CA181500047 rs759816359 |
92 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367964462 CA4816534 |
102 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371754259 rs1327643828 |
104 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 105 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934383157 CA181501171 |
110 | L>F | No |
ClinGen Ensembl |
|
|
rs751508988 CA4816554 |
111 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371754350 rs1462593441 |
117 | F>I | No |
ClinGen TOPMed |
|
|
CA181501178 rs1054151156 |
120 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767237143 CA4816556 |
122 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4816558 RCV000906739 rs536174142 |
123 | F>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA4816559 rs777384907 |
124 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4816560 rs748935593 |
125 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1195907821 CA371754408 |
125 | Q>H | No |
ClinGen TOPMed |
|
|
CA371754410 rs1369272542 |
126 | V>L | No |
ClinGen gnomAD |
|
|
rs370004918 CA4816562 |
129 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183729827 CA371754443 |
131 | Y>H | No |
ClinGen gnomAD |
|
|
CA371754464 rs1416260117 |
134 | D>N | No |
ClinGen gnomAD |
|
|
RCV001089765 rs1810833573 |
137 | L>F | No |
ClinVar dbSNP |
|
|
CA181501212 rs1039312152 |
138 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4816563 rs747493340 |
138 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs747493340 CA371754493 |
138 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769835679 CA4816565 |
140 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000443001 rs1057521718 CA16606178 |
141 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748543683 CA4816566 |
141 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057521718 CA371754509 |
141 | T>S | No |
ClinGen Ensembl |
|
|
CA4816568 rs773452274 |
142 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA371754512 rs773452274 |
142 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs141629731 CA4816569 |
143 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4816570 rs766465340 |
144 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4816571 rs774304076 |
147 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA181504037 rs4565430 |
148 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 149 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181504040 rs1011238847 |
150 | A>T | No |
ClinGen Ensembl |
|
|
rs1318816895 CA371754584 |
151 | V>M | No |
ClinGen TOPMed |
|
|
rs1249089428 CA371754612 |
153 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1249089428 CA371754610 |
153 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1451546343 CA371754615 |
154 | H>N | No |
ClinGen gnomAD |
|
|
rs201182618 CA4816594 |
154 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4816596 rs753581325 |
155 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371754675 rs1404208233 |
159 | E>K | No |
ClinGen gnomAD |
|
|
CA371754751 rs1319616236 |
164 | H>D | No |
ClinGen gnomAD |
|
|
rs1365732047 CA371754771 |
165 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291828630 CA371754786 |
166 | D>G | No |
ClinGen TOPMed |
|
|
CA371754803 rs1436822451 |
167 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1395888873 CA371754826 |
169 | A>V | No |
ClinGen TOPMed |
|
|
CA4816599 rs750138177 |
171 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs757948467 CA4816600 |
174 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1464399774 CA371754897 |
174 | W>S | No |
ClinGen TOPMed |
|
|
rs1233291391 CA371754915 |
175 | G>V | No |
ClinGen gnomAD |
|
|
CA371754938 rs1423352389 |
177 | A>S | No |
ClinGen TOPMed |
|
|
rs368150019 CA4816601 |
179 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4816602 rs753241269 |
182 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202206461 CA371755044 |
187 | G>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA181504058 rs975917322 |
187 | G>D | No |
ClinGen TOPMed |
|
|
rs202206461 CA181504052 |
187 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA371755082 rs1434010070 |
190 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 192 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468522060 CA371755190 |
199 | T>N | No |
ClinGen gnomAD |
|
|
CA371755195 rs1348365904 |
200 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371756051 rs1356085783 |
201 | L>P | No |
ClinGen TOPMed |
|
|
CA181505253 rs897699454 |
204 | M>L | No |
ClinGen TOPMed |
|
|
rs1257318976 CA371756097 |
204 | M>R | No |
ClinGen gnomAD |
|
|
rs780067819 CA4816629 |
205 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM290392 CA4816630 rs375073869 |
209 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4816632 rs776404022 |
212 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251782763 CA371756304 |
219 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 221 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748373115 CA181505262 |
225 | C>* | No |
ClinGen Ensembl |
|
|
CA4816637 rs766157225 |
228 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA371756416 rs1209769402 |
229 | G>S | No |
ClinGen TOPMed |
|
|
rs758944053 CA4816639 |
231 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4816640 rs767123710 |
233 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA371756451 rs1180114934 |
234 | M>I | No |
ClinGen gnomAD |
|
|
CA4816641 CA4816642 rs754291059 |
234 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586197202 CA371756457 |
235 | V>G | No |
ClinGen Ensembl |
|
|
rs368785037 COSM1102772 CA4816644 |
236 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4816646 rs758567950 |
238 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA4816645 rs758567950 |
238 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA181505291 rs964046382 |
238 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA371756474 rs1586197224 |
239 | F>V | No |
ClinGen Ensembl |
|
|
CA371756503 rs1436258686 |
242 | M>I | No |
ClinGen gnomAD |
|
|
rs1586197240 CA371756513 |
244 | T>A | No |
ClinGen Ensembl |
|
|
rs1305613002 CA371756515 |
244 | T>N | No |
ClinGen TOPMed |
|
|
rs1017730495 CA181505298 |
246 | H>Q | No |
ClinGen TOPMed |
|
|
CA371756547 rs1375356638 COSM1222439 |
248 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA371756551 rs1380545163 |
249 | S>N | No |
ClinGen gnomAD |
|
|
rs538008429 CA4816663 |
251 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4816664 rs763273749 |
254 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371756783 rs1170399535 |
256 | T>S | No |
ClinGen TOPMed |
|
|
rs113743527 CA181506383 |
261 | K>T | No |
ClinGen Ensembl |
|
|
rs1811090763 RCV001217556 |
263 | A>missing | No |
ClinVar dbSNP |
|
|
rs183329073 CA181506388 |
268 | T>A | No |
ClinGen 1000Genomes |
|
|
CA371756874 rs1436287261 |
270 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1300025822 CA371756890 |
272 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs754034904 CA4816667 |
274 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218683875 CA371756908 |
275 | V>F | No |
ClinGen gnomAD |
|
|
CA4816669 rs142695191 COSM170637 |
276 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1312675418 CA371756915 |
276 | R>L | No |
ClinGen gnomAD |
|
|
rs756063298 TCGA novel CA4816670 |
277 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs1464217539 CA371756950 |
281 | K>R | No |
ClinGen gnomAD |
|
|
CA371756949 rs1464217539 |
281 | K>T | No |
ClinGen gnomAD |
|
|
COSM3432649 rs1249447586 CA371756957 |
282 | S>Y | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| rs1209134147 | 283 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476854796 CA371756978 |
285 | Q>R | No |
ClinGen gnomAD |
|
|
CA4816672 rs749275787 |
286 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4816675 rs147937398 |
287 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4816674 rs778867009 |
287 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4816677 rs139349789 |
288 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4816676 rs771791571 |
288 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA371757032 rs1458053442 |
294 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA371757040 rs1323007000 |
295 | I>V | No |
ClinGen gnomAD |
|
|
rs1348332195 CA371757058 |
297 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1404978973 CA371757297 |
300 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371757307 rs1351847405 |
301 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762544416 RCV000413772 CA16042746 |
304 | T>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 304 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586200351 CA371757325 |
304 | T>P | No |
ClinGen Ensembl |
|
|
rs757267921 CA4816692 |
307 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4816693 rs373266938 |
309 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290088550 CA371757440 |
320 | S>G | No |
ClinGen gnomAD |
|
|
CA371757442 rs1203131518 |
320 | S>N | No |
ClinGen Ensembl |
|
|
CA4816696 rs779602012 |
330 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4816697 rs746733290 |
331 | T>K | No |
ClinGen ExAC |
|
|
rs768143113 CA4816698 |
334 | T>S | No |
ClinGen ExAC |
|
| TCGA novel | 337 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 338 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 338 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371757150 rs1188091614 |
339 | Y>C | No |
ClinGen gnomAD |
|
|
rs984167973 CA371757178 |
343 | T>I | No |
ClinGen gnomAD |
|
|
rs1586201946 CA371757174 |
343 | T>P | No |
ClinGen Ensembl |
|
|
rs984167973 CA181491223 |
343 | T>S | No |
ClinGen gnomAD |
|
|
CA4816717 COSM1194623 rs747675786 |
344 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA371757187 rs1408116620 |
345 | T>A | No |
ClinGen gnomAD |
|
|
CA181491239 rs878935975 |
347 | C>R | No |
ClinGen Ensembl |
|
|
CA181491243 rs894531875 |
349 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4816720 rs746427419 |
350 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA181491251 rs746427419 |
350 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 358 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769187486 CA4816743 |
360 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1201716526 CA371758081 |
360 | I>V | No |
ClinGen gnomAD |
|
|
CA371758102 rs1370935616 |
363 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371758117 rs1158118350 |
365 | A>D | No |
ClinGen gnomAD |
|
|
rs1181431175 CA371758127 |
367 | V>I | No |
ClinGen TOPMed |
|
|
CA4816745 rs755348572 |
369 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455019490 CA371758181 |
374 | D>G | No |
ClinGen gnomAD |
|
|
rs1010571471 CA181498336 |
381 | I>L | No |
ClinGen Ensembl |
|
|
CA4816750 rs751543129 |
381 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766245808 CA4816749 |
381 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 383 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4816752 rs767365710 |
385 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1563582954 CA371758275 |
388 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 389 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181498376 rs200992477 |
391 | V>A | No |
ClinGen gnomAD |
|
|
rs781468003 CA181498373 |
391 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781468003 CA4816754 |
391 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371758306 rs1248520559 |
392 | A>T | No |
ClinGen gnomAD |
|
|
CA371758310 rs1272567302 |
392 | A>V | No |
ClinGen gnomAD |
|
|
CA4816767 rs771034385 |
394 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774267515 CA4816768 |
396 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs759525618 CA4816769 |
397 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4816770 rs575649350 |
398 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000938578 rs144997851 CA4816771 |
400 | Y>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4816773 rs561447654 |
401 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4816774 rs564223313 |
403 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1351892730 CA371758383 |
404 | W>R | No |
ClinGen TOPMed |
|
|
CA371758386 rs1166617323 |
404 | W>S | No |
ClinGen TOPMed |
|
|
CA181503196 rs916463087 |
405 | Y>C | No |
ClinGen gnomAD |
|
|
rs1025716900 CA181503202 |
406 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA181503206 rs947991928 |
407 | E>A | No |
ClinGen Ensembl |
|
|
COSM3779437 CA181503208 rs1044410031 |
408 | H>R | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4816775 rs756721220 |
409 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA371758439 rs1295602847 |
412 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1295602847 CA371758438 |
412 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4816777 rs368400477 |
412 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371758457 COSM1132660 rs1297875969 CA371758456 |
414 | K>N | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA371758454 rs1229192023 |
414 | K>R | No |
ClinGen gnomAD |
|
|
CA4816802 rs146784811 |
417 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA181503743 rs1053756490 |
419 | C>R | No |
ClinGen TOPMed |
|
|
CA4816803 rs184841579 COSM1287446 |
419 | C>Y | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA4816804 rs772180656 |
420 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs141163428 CA4816805 |
422 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371758524 rs1563588044 |
423 | T>A | No |
ClinGen Ensembl |
|
|
RCV000953761 CA4816806 rs7835798 VAR_048735 |
423 | T>N | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4816809 rs776491858 |
424 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs556701669 CA4816808 |
424 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs796677792 CA181503812 |
426 | P>T | No |
ClinGen Ensembl |
|
|
RCV000971765 CA4816811 rs201801916 |
427 | E>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4816812 rs773045928 |
428 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA181503831 rs1035296583 |
428 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 430 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970889178 CA181503850 |
431 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4816813 rs762517295 |
434 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 439 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA181505010 rs953693483 |
443 | P>L | No |
ClinGen TOPMed |
|
|
rs770288541 CA4816836 |
444 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371758891 rs770288541 |
444 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4816837 rs773916228 |
447 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371758927 rs1586214754 RCV000999059 |
449 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs554561031 CA4816839 |
450 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1286686340 CA371758950 |
452 | S>N | No |
ClinGen TOPMed |
|
|
CA4816841 rs762160826 |
453 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765649190 CA4816842 |
455 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4816844 rs750590433 |
459 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs758655652 CA4816845 |
460 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs758655652 CA371759001 |
460 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA181505040 rs369624843 |
462 | S>Y | No |
ClinGen ESP TOPMed |
|
|
CA4816847 rs770553248 |
467 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4816848 rs755058858 |
468 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371759059 rs1245156962 |
469 | G>D | No |
ClinGen gnomAD |
|
|
CA4816850 rs748159287 |
470 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371759062 rs748159287 |
470 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374099167 CA4816852 |
472 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777723258 CA4816853 |
472 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1422997267 CA371759082 |
473 | K>T | No |
ClinGen gnomAD |
1 associated diseases with P48651
[MIM: 151050]: Lenz-Majewski hyperostotic dwarfism (LMHD)
A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. {ECO:0000269|PubMed:24241535}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction. {ECO:0000269|PubMed:24241535}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for P48651
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Squalene/phytoene synthase, conserved site | 239 - 254 | IPR019845-1 |
| conserved_site | Squalene/phytoene synthase, conserved site | 275 - 300 | IPR019845-2 |
| domain | Trans-isoprenyl diphosphate synthases, head-to-head | 122 - 389 | IPR033904 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.8.29 | Transferases for other substituted phosphate groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| L-serine-phosphatidylcholine phosphatidyltransferase activity | Catalysis of the reaction: a 1,2-diacyl-sn-glycero-3-phosphocholine + L-serine = 1,2-diacyl-sn-glycero-3-phospho-L-serine + choline. |
| L-serine-phosphatidylethanolamine phosphatidyltransferase activity | Catalysis of the reaction: L-1-phosphatidylethanolamine + L-serine <=> L-1-phosphatidylserine + ethanolamine. |
| transferase activity | Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| phosphatidylserine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylserines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of L-serine. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KHY9 | PTDSS1 | Phosphatidylserine synthase 1 | Bos taurus (Bovine) | PR |
| E1BYA3 | PTDSS1 | Phosphatidylserine synthase 2 | Gallus gallus (Chicken) | PR |
| Q5ZM65 | PTDSS1 | Phosphatidylserine synthase 1 | Gallus gallus (Chicken) | PR |
| Q9Z1X2 | Ptdss2 | Phosphatidylserine synthase 2 | Mus musculus (Mouse) | PR |
| Q99LH2 | Ptdss1 | Phosphatidylserine synthase 1 | Mus musculus (Mouse) | PR |
| Q5PQL5 | Ptdss1 | Phosphatidylserine synthase 1 | Rattus norvegicus (Rat) | PR |
| Q6I628 | PSS2 | CDP-diacylglycerol--serine O-phosphatidyltransferase 2 | Oryza sativa subsp japonica (Rice) | PR |
| Q5N8Q3 | PSS3 | CDP-diacylglycerol--serine O-phosphatidyltransferase 3 | Oryza sativa subsp japonica (Rice) | PR |
| F4HXY7 | PSS1 | CDP-diacylglycerol--serine O-phosphatidyltransferase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q08D11 | ptdss2 | Phosphatidylserine synthase 2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| E7EY42 | ptdss2 | Phosphatidylserine synthase 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASCVGSRTL | SKDDVNYKMH | FRMINEQQVE | DITIDFFYRP | HTITLLSFTI | VSLMYFAFTR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DDSVPEDNIW | RGILSVIFFF | LIISVLAFPN | GPFTRPHPAL | WRMVFGLSVL | YFLFLVFLLF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LNFEQVKSLM | YWLDPNLRYA | TREADVMEYA | VNCHVITWER | IISHFDIFAF | GHFWGWAMKA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLIRSYGLCW | TISITWELTE | LFFMHLLPNF | AECWWDQVIL | DILLCNGGGI | WLGMVVCRFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EMRTYHWASF | KDIHTTTGKI | KRAVLQFTPA | SWTYVRWFDP | KSSFQRVAGV | YLFMIIWQLT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELNTFFLKHI | FVFQASHPLS | WGRILFIGGI | TAPTVRQYYA | YLTDTQCKRV | GTQCWVFGVI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GFLEAIVCIK | FGQDLFSKTQ | ILYVVLWLLC | VAFTTFLCLY | GMIWYAEHYG | HREKTYSECE |
| 430 | 440 | 450 | 460 | 470 | |
| DGTYSPEISW | HHRKGTKGSE | DSPPKHAGNN | ESHSSRRRNR | HSKSKVTNGV | GKK |