Variant position: 384 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 472 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 GRYCMQLAQIQEMIGSVEEQ LAQLRCEMEQQNQEYKILLDV
Mouse GRYCMQLAQIQEMIGSVEEQ LAQLRCEMEQQNQEYKILLDV
Rat GRYCMQLAQIQEMIGSVEEQ LAQLRCEMEQQNQEYKILLDV
Chicken ARYGTQLAQLQALITSVEEQ LAELRCDMERQNHEYRVLLDV
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.
Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.
Bonifas J.M.; Rothman A.L.; Epstein E.H. Jr.;
Cited for: VARIANT K-EBS PRO-384;
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
Mueller F.B.; Kuester W.; Wodecki K.; Almeida H. Jr.; Bruckner-Tuderman L.; Krieg T.; Korge B.P.; Arin M.J.;
Hum. Mutat. 27:719-720(2006)
Cited for: VARIANTS DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417; VARIANTS K-EBS LEU-133; THR-272 AND PRO-384; VARIANTS WC-EBS PRO-211 AND GLU-411 DEL;
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.