| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs121918103 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs121918104 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs121918105 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs121918106 |
T>A,C |
Pathogenic |
Missense variant, initiator codon variant |
| rs121918107 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs121918108 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
| rs121918109 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs121918110 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
| rs150177878 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs200319381 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs377027316 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs558427025 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs574280149 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs757687480 |
AAC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
| rs1431844269 |
CTT>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
| rs1554879741 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1554879785 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1554880848 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1564815053 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1589446748 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs1589448124 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1589451049 |
C>A |
Pathogenic |
Splice acceptor variant |
| rs1589451050 |
T>C |
Pathogenic |
Splice acceptor variant |
|
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
P07602 |
| Protein name |
Prosaposin (Proactivator polypeptide) [Cleaved into: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sphingolipid activator protein 1) (SAP-1) (Sulfatide/GM1 activator); Saposin-C (A1 activator) (Co-bet |
| Protein function |
Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic li |
| PDB |
1M12
, 1N69
, 1SN6
, 2DOB
, 2GTG
, 2QYP
, 2R0R
, 2R1Q
, 2RB3
, 2Z9A
, 3BQP
, 3BQQ
, 4DDJ
, 4UEX
, 4V2O
, 6SLR
, 8EQU
, 9AVS
, 9AXG
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF02199 |
SapA |
22 → 54 |
Saposin A-type domain |
Family |
| PF05184 |
SapB_1 |
61 → 98 |
Saposin-like type B, region 1 |
Domain |
| PF03489 |
SapB_2 |
104 → 138 |
Saposin-like type B, region 2 |
Family |
| PF05184 |
SapB_1 |
196 → 234 |
Saposin-like type B, region 1 |
Domain |
| PF03489 |
SapB_2 |
239 → 271 |
Saposin-like type B, region 2 |
Family |
| PF05184 |
SapB_1 |
313 → 350 |
Saposin-like type B, region 1 |
Domain |
| PF03489 |
SapB_2 |
355 → 388 |
Saposin-like type B, region 2 |
Family |
| PF05184 |
SapB_1 |
407 → 444 |
Saposin-like type B, region 1 |
Domain |
| PF03489 |
SapB_2 |
449 → 482 |
Saposin-like type B, region 2 |
Family |
| PF02199 |
SapA |
492 → 524 |
Saposin A-type domain |
Family |
|
| Sequence |
|
| Sequence length |
524 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Combined PSAP deficiency |
Likely pathogenic; Pathogenic |
rs760391023, rs772826932, rs113365744, rs879116657, rs121918103, rs121918104, rs121918106, rs1842310280, rs1589446748, rs1589448124, rs2494541533, rs1554879741, rs1431844269, rs770171865 |
RCV001542767 RCV001542768 RCV005040390 RCV003333380 RCV005042048 RCV000588928 RCV000014293 RCV000014297 RCV000014302 RCV005049337 RCV005047689 RCV000505561 RCV001528144 RCV005047275 |
| Gaucher disease due to saposin C deficiency |
Likely pathogenic; Pathogenic |
rs113365744, rs121918103, rs121918105, rs121918106, rs121918108, rs121918109, rs121918110, rs1589448124, rs2494541533, rs1554879741, rs1431844269, rs770171865, rs765744298 |
RCV001801340 RCV005042048 RCV000014292 RCV000014294 RCV000014299 RCV000014300 RCV000014301 RCV005049337 RCV005047689 RCV000505561 RCV002477518 RCV005047275 RCV001449850 |
| Hepatocellular carcinoma |
Likely pathogenic |
rs779384030 |
RCV005925450 |
| Krabbe disease due to saposin A deficiency |
Pathogenic; Likely pathogenic |
rs2133049150, rs113365744, rs121918103, rs1589448124, rs2494541533, rs1554879741, rs1554881272, rs1431844269, rs770171865, rs1842392331 |
RCV001731262 RCV005040390 RCV005042048 RCV005049337 RCV005047689 RCV000505561 RCV001731817 RCV002477518 RCV005047275 RCV004821301 |
| Melanoma |
Likely pathogenic |
rs2133047947 |
RCV005925413 |
| Metachromatic leukodystrophy |
Likely pathogenic; Pathogenic |
rs759960679, rs121918107, rs121918110, rs1554880848, rs1431844269, rs770171865, rs121918106, rs765744298 |
RCV005237377 RCV005606634 RCV003317034 RCV005606676 RCV002307590 RCV001827403 RCV001833645 RCV001280271 |
| Parkinson disease 24, autosomal dominant, susceptibility to |
Likely pathogenic; Pathogenic |
rs767713908, rs113365744, rs121918103, rs121918104, rs1589451049, rs1589448124, rs2494541533, rs1431844269, rs770171865, rs121918106 |
RCV005860231 RCV005040390 RCV005042048 RCV004527289 RCV005357124 RCV005049337 RCV005047689 RCV002477518 RCV005047275 RCV004820867 |
| PSAP-related disorder |
Likely pathogenic; Pathogenic |
rs121918107, rs1554881272, rs1431844269 |
RCV003398506 RCV004722987 RCV003420203 |
| Sphingolipid activator protein 1 deficiency |
Likely pathogenic; Pathogenic |
rs2133030537, rs2133031639, rs767713908, rs2133043288, rs113365744, rs949729827, rs2133029725, rs2133031097, rs2133047947, rs1842392331, rs2133053013, rs779384030, rs765607332, rs2133048124, rs2133043442, rs2133053107, rs1842392268, rs2494498363, rs2494525720, rs761831797, rs2494525612, rs2494526165, rs2494516881, rs2494516860, rs2494541782, rs2494523338, rs2494522736, rs121918103, rs759960679, rs121918104, rs121918106, rs1589451049, rs121918107, rs1589446748, rs1589451050, rs1589448124, rs112041816, rs2494506149, rs2494535401, rs111610925, rs2494541533, rs2494494292, rs2494532805, rs1436008939, rs971589777, rs2494497146, rs2494498245, rs1489308019, rs2494533554, rs1554879741, rs1554880848, rs1564815053, rs1431844269, rs770171865, rs1842248191, rs1244889985, rs765744298 View all (42 more) |
RCV001378136 RCV001383261 RCV001389490 RCV003626688 RCV002541348 RCV002038695 RCV001993817 RCV001950813 RCV001975717 RCV001973402 RCV001897524 RCV001971771 RCV001942173 RCV001917936 RCV001934357 RCV001986796 RCV002291315 RCV002795722 RCV002801121 RCV002825544 RCV002833405 RCV002880738 RCV002867700 RCV003013783 RCV003053867 RCV003043994 RCV003154637 RCV003154638 RCV000014289 RCV000014290 RCV000014291 RCV001857349 RCV000014295 RCV000014296 RCV001851850 RCV000014303 RCV000014304 RCV003514705 RCV003514693 RCV003515622 RCV003514816 RCV003516323 RCV003515772 RCV003515833 RCV003516109 RCV003627684 RCV003627966 RCV003627972 RCV003628471 RCV003628480 RCV003626263 RCV000505561 RCV002529049 RCV000755007 RCV000755006 RCV001063288 RCV001066448 RCV001212745 RCV001244145 RCV002570572 RCV002541741 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Atypical Gaucher Disease |
Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance |
rs138328594, rs143987544, rs145948209, rs886047156, rs886047154, rs534586960, rs886047155, rs760621775, rs571773332, rs28365838 |
RCV000361976 RCV000398978 RCV000333211 RCV000336843 RCV000301040 RCV000304421 RCV000364883 RCV000380910 RCV000272506 RCV000259641 |
| Cervical cancer |
Likely benign |
rs12769743, rs138636858 |
RCV005917683 RCV005910832 |
| Cholangiocarcinoma |
Benign |
rs12413995, rs41307569, rs55829339 |
RCV005922959 RCV005892613 RCV005886407 |
| Clear cell carcinoma of kidney |
Likely benign |
rs149305591 |
RCV005910834 |
| Galactosylceramide beta-galactosidase deficiency |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs1049882, rs138328594, rs143987544, rs145948209, rs886047156, rs886047154, rs142272618, rs534586960, rs886047155, rs114389264, rs760621775, rs571773332, rs28365838 |
RCV001271962 RCV000304947 RCV000351340 RCV000329668 RCV000375131 RCV000399236 RCV001271964 RCV000361509 RCV000272681 RCV001271961 RCV000328597 RCV000274090 RCV000355868 |
| Gastric cancer |
Likely benign |
rs149305591 |
RCV005910835 |
| Lung cancer |
Likely benign |
rs138636858 |
RCV005910833 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs55829339 |
RCV005886405 |
| Malignant tumor of esophagus |
Likely benign |
rs12769743 |
RCV005917682 |
| Neuromuscular disease |
Conflicting classifications of pathogenicity |
rs2494541474 |
RCV004797646 |
| Ovarian serous cystadenocarcinoma |
Likely benign; Uncertain significance |
rs12769743, rs372262659 |
RCV005917685 RCV005926664 |
| Parkinson disease, late-onset |
Uncertain significance |
rs756379007 |
RCV001836944 |
| Sarcoma |
Likely benign |
rs12769743 |
RCV005917684 |
| Thymoma |
Likely benign |
rs12769743 |
RCV005917687 |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance |
rs773349568 |
RCV005924133 |
| Uterine carcinosarcoma |
Likely benign; Benign |
rs12769743, rs41307569, rs55829339 |
RCV005917686 RCV005892612 RCV005886406 |
| Uterine corpus endometrial carcinoma |
Likely benign |
rs757887601 |
RCV005903191 |
| Uveal melanoma |
Benign |
rs55829339 |
RCV005886404 |
|
| Disease Name |
Relationship Type |
References |
| Alzheimer Disease |
Stimulate |
26627638 |
| Alzheimer Disease |
Associate |
31864418, 34374777, 37232225 |
| Carcinoma Hepatocellular |
Associate |
2825202 |
| Carcinoma Pancreatic Ductal |
Associate |
35633503 |
| Churg Strauss Syndrome |
Associate |
18263571 |
| Cognition Disorders |
Associate |
34690151 |
| Colorectal Neoplasms |
Associate |
39947398 |
| Combined Saposin Deficiency |
Associate |
19267410 |
| Diabetic Nephropathies |
Associate |
36211816 |
| Diffuse Neurofibrillary Tangles with Calcification |
Associate |
34374777 |
| Epilepsy Idiopathic Generalized |
Associate |
16407257 |
| Esophageal Squamous Cell Carcinoma |
Associate |
21743296 |
| Eunuchism |
Inhibit |
15548330 |
| Eunuchism |
Associate |
35663320 |
| Frontotemporal Dementia |
Associate |
31600775 |
| Gallbladder Neoplasms |
Associate |
24657443 |
| Gaucher Disease |
Associate |
23108186, 35456468 |
| Gaucher Disease Atypical Due To Saposin C Deficiency |
Associate |
23108186, 35456468 |
| Genetic Diseases Inborn |
Associate |
1637339 |
| Gliosis |
Stimulate |
37232225 |
| Infertility |
Associate |
35663320 |
| Leukemia Myeloid Acute |
Associate |
39506790 |
| Leukodystrophy Metachromatic |
Associate |
1350885, 1689485, 2019586 |
| Lewy Body Disease |
Associate |
26627638 |
| Lymphatic Metastasis |
Associate |
20132547 |
| Lysosomal Storage Diseases |
Inhibit |
36233303 |
| Malformations of Cortical Development |
Associate |
28222113 |
| Malformations of Cortical Development Group I |
Associate |
26025363 |
| Metachromatic Leukodystrophy due to Saposin B Deficiency |
Inhibit |
19267410 |
| Metachromatic Leukodystrophy due to Saposin B Deficiency |
Associate |
2320574 |
| Motor Disorders |
Associate |
34690151 |
| Mucolipidoses |
Associate |
1637339 |
| Multiple Myeloma |
Associate |
39231316 |
| Multiple Sclerosis |
Associate |
37299978 |
| Neoplasms |
Associate |
21630292, 35633503 |
| Nerve Degeneration |
Associate |
34374777 |
| Osteogenesis imperfecta type 2B |
Associate |
32683403 |
| Pancreatic Neoplasms |
Associate |
35633503 |
| Parkinson Disease |
Associate |
34690151 |
| Parkinson Disease |
Inhibit |
36233303 |
| Plaque Amyloid |
Associate |
34374777 |
| Pre Eclampsia |
Associate |
35860693 |
| Prostatic Neoplasms |
Associate |
15548330, 20132547 |
| Prostatic Neoplasms |
Stimulate |
21630292 |
| Prostatic Neoplasms Castration Resistant |
Stimulate |
21630292 |
| Prostatitis |
Associate |
15548330 |
| REM Sleep Behavior Disorder |
Associate |
34690151 |
| Sphingolipidoses |
Associate |
1350885, 1371116, 1689485 |
| Virilism |
Associate |
35663320 |
|