Variant position: 369 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 KAWEPWLPAEALRTLRIGGF YALSPYPGLRLISLNMNFCSR
Mouse KAWEPWLPADALHTLRIGGF YALTPRPGLRLISLNMNFCSR
Bovine EAWEPWLPAEALRTLRIGGF YALSPRPGLRLISLNMNFCSR
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
365 – 420 Missing. In isoform 3.
365 – 376 IGGFYALSPYPG -> YLSSVETQEGKR. In isoform 2.
369 – 374
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
Rodriguez-Pascau L.; Gort L.; Schuchman E.H.; Vilageliu L.; Grinberg D.; Chabas A.;
Hum. Mutat. 30:1117-1122(2009)
Cited for: VARIANTS NPDA SER-247; CYS-369; PHE-392 DEL; ARG-423; SER-469; GLU-484 AND THR-594 DEL; VARIANTS NPDB CYS-230; HIS-378; TRP-476; ALA-488 AND ARG-610 DEL;
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P.; Matta D.; Bhavani G.S.; Wangnekar S.; Jain J.M.; Verma I.C.; Kabra M.; Puri R.D.; Danda S.; Gupta N.; Girisha K.M.; Sankar V.H.; Patil S.J.; Ramadevi A.R.; Bhat M.; Gowrishankar K.; Mandal K.; Aggarwal S.; Tamhankar P.M.; Tilak P.; Phadke S.R.; Dalal A.;
Am. J. Med. Genet. A 170:2719-2730(2016)
Cited for: VARIANTS ALA-36; PHE-510 AND GLY-605; VARIANTS NPDA ARG-216; CYS-230; SER-255; ARG-319; PRO-324; ARG-343; ARG-363; HIS-391; ARG-393; SER-426; ILE-494; HIS-498; ARG-535 AND HIS-602; VARIANTS NPDB PRO-105; PHE-282; ASP-320; CYS-369; SER-465; LEU-520 AND LYS-549;
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.