Variant position: 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 483 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 GSSN--FRGGLG---------GGYGGASGMG--------- GITAVTVNQSLLSPLVLEVDP
Mouse GSSSSSFRGSMGTGVGL----GGFGGA-GVG--------- G
Rat GSSSSSFRGSLG----------GFGGA-GVG--------- G
Bovine GSSS-SFRGGLGTGMSM---AGSYGGAPGLG--------- G
Xenopus laevis GSS---YGGASRFGSGY---RSGFGGA-GVGS-------A G
Zebrafish GGVNRGMGAGMGGGSGFISSSSAYGLGMGMGTGMGAGVVA P
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 – 483 Keratin, type II cytoskeletal 8
1 – 90 Head
43 – 43 Phosphoserine
44 – 44 Phosphoserine
47 – 47 Asymmetric dimethylarginine; alternate
47 – 47 Omega-N-methylarginine; alternate
74 – 74 Phosphoserine; by MAPK
72 – 72 L -> P. Increases phosphorylation.
74 – 74 S -> A. Generates normal-appearing filaments, that remain stable after okadaic acid treatment.
74 – 74 S -> D. Generates normal-appearing filaments, that are destabilized by okadaic acid.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT CYS-62;
Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.
Ku N.-O.; Darling J.M.; Krams S.M.; Esquivel C.O.; Keeffe E.B.; Sibley R.K.; Lee Y.M.; Wright T.L.; Omary M.B.;
Proc. Natl. Acad. Sci. U.S.A. 100:6063-6068(2003)
Cited for: VARIANTS CIRRH VAL-53; CYS-54 AND CYS-62; VARIANT VAL-63;
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.