Variant position: 53 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 ISSSSFSRVGSSN--FRGGLG---------G GYGGASGMG---------GITAVTVNQSLL
Mouse ISSSSFSRVGSSSSSFRGSMGTGVGL----G GFGGA-GVG-
Rat ISSSSFSRVGSSSSSFRGSLG---------- GFGGA-GVG-
Bovine ISSSAFSRVGSSS-SFRGGLGTGMSM---AG SYGGAPGLG-
Xenopus laevis ASSASFS-LGSS---YGGASRFGSGY---RS GFGGA-GVGS
Zebrafish QSYSARSSYGGVNRGMGAGMGGGSGFISSSS AYGLGMGMGT
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
34 – 34 Phosphoserine
37 – 37 Phosphoserine
39 – 39 Phosphoserine
40 – 40 Omega-N-methylarginine
43 – 43 Phosphoserine
44 – 44 Phosphoserine
47 – 47 Asymmetric dimethylarginine; alternate
47 – 47 Omega-N-methylarginine; alternate
72 – 72 L -> P. Increases phosphorylation.
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.