Variant position: 258 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 631 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ASRPGAGYWGEYSKCDLPLR TLESLLSGLGPAGPFDMVYWT
Mouse NSQKGAGFWGEYSKCDLPLR TLESLLKGLGPAGPFEMVYWT
Bovine ASQPGAGYWGEYSKCDLPLR TLESLLSGLGPAGPFDMVYWT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
47 – 631 Sphingomyelin phosphodiesterase
250 – 250 S -> A. No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. No effect on phosphorylation by PRKCD.
256 – 264
SMPD1 mutation update: database and comprehensive analysis of published and novel variants.
Zampieri S.; Filocamo M.; Pianta A.; Lualdi S.; Gort L.; Coll M.J.; Sinnott R.; Geberhiwot T.; Bembi B.; Dardis A.;
Hum. Mutat. 37:139-147(2016)
Cited for: VARIANTS NPDB ILE-258; GLN-476; ASP-577; ARG-598 AND CYS-610; VARIANT NPDA PHE-482 DEL; REVIEW ON VARIANTS;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.