Variant position: 382 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 581 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 GHVFPKQAPYSR---------NKALANSV RAAEVWMDEFKELYYHRNPRA
Mouse GHVFPKQAPYSR---------SKALANSV RAAEVWMDEFKE
Drosophila GHLQPKDEDYLKRYGDLHKMGEQKSRNLK RIIEVWTGDLKS
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
1 – 581 Polypeptide N-acetylgalactosaminyltransferase 12
38 – 581 Lumenal
363 – 363 Manganese
371 – 371 Substrate
349 – 422
Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
Guda K.; Moinova H.; He J.; Jamison O.; Ravi L.; Natale L.; Lutterbaugh J.; Lawrence E.; Lewis S.; Willson J.K.; Lowe J.B.; Wiesner G.L.; Parmigiani G.; Barnholtz-Sloan J.; Dawson D.W.; Velculescu V.E.; Kinzler K.W.; Papadopoulos N.; Vogelstein B.; Willis J.; Gerken T.A.; Markowitz S.D.;
Proc. Natl. Acad. Sci. U.S.A. 106:12921-12925(2009)
Cited for: VARIANTS CRCS1 TRP-297; ASN-303; ASP-341; HIS-373; HIS-382; PHE-479 AND MET-491; CHARACTERIZATION OF VARIANTS CRCS1 TRP-297; ASN-303; ASP-341; HIS-373; HIS-382; PHE-479 AND MET-491; VARIANTS GLU-3; ARG-46; VAL-119; ASN-261; ARG-272 AND LYS-552;
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.