Variant position: 396 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 685 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 GLGNLTIIIETMSHKHSKC-I RPFLPYFNVSQQFATFVLKGS
Rhesus macaque GLGNLTIIIETMSHKHSKC-I RPFLPYFNVSQQFATFVLKG
Mouse GLGNLTIIIETMSHQHSMC-I RPYLPYYNVSHQLATFTLKG
Xenopus laevis RLGNLTVIIETMSHNNSIC-I RPPLPEYNVSAQNATFYLQG
Xenopus tropicalis RLGNLTIVIETMSHNNSIC-I RPPLPDYNVSAQYATFYLQG
Zebrafish RKGNLTIIIETMTHEHSQC-I RPPLPHFDVSPQIATFELKG
Caenorhabditis elegans GKDS-TIFVETMSYKKSLCEY SSPRPYHVKPSQLIRF----
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
43 – 685 Galactocerebrosidase
396 – 396 Substrate
379 – 379 N-linked (GlcNAc...) asparagine
403 – 403 N-linked (GlcNAc...) asparagine
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B.; Biancheri R.; Mort M.; Regis S.; Corsolini F.; Rossi A.; Stroppiano M.; Lualdi S.; Fiumara A.; Bembi B.; Di Rocco M.; Cooper D.N.; Filocamo M.;
Hum. Mutat. 31:E1894-E1914(2010)
Cited for: VARIANTS GLD LYS-130; ARG-318; ARG-323; THR-384; LEU-396 AND ASN-490; VARIANTS PRO-21; CYS-184; ASN-248; THR-562 AND ALA-641;
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.