Vps37a - SNV Details



 Human Rare Diseases 
Autosomal recessive spastic paraplegia type 53

 Gene Information 
Gene Name Vps37a
Old Gene Names for Vps37a 2210018p21rik , 4930592a21rik , Aw261445 , D8ertd531e
Gene Description vacuolar protein sorting 37A (yeast) [Source:MGI Symbol;Acc:MGI:1261835]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; protein transport; intracellular membrane-bounded organelle; nucleus; late endosome membrane; centrosome; molecular_function
Homolog in other species VPS37A
Omim http://omim.org/entry/609927
Immgen Expression
MEDIAN(HIGH IN DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN(HIGH IN M1)
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031600
Chromosome 8
Coordinate 40,540,730     (Assembly: GRCm38)    
Ref Base G
Codon Change caG/caT
Var Base T
Zygosity Heterozygous
Read Depth 38
Allele Frequency
G:R0.50
T:V0.50
Amino Acid Position 255
Amino Acid Change Q->H (Glutamine -> Histidine)
Sample ID IGL01963
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.86
Polyphen Prediction Possibly damaging
Sift Score 0.02
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000096415:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Modifier of rudimentary, Modr Mod_r IPR009851 ENSMUSP00000096415 Pfam 234
383 Description available Search pathways

 Availability Details 
Availability