Variant position: 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 720 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 IAWLETNGATSTEVSLCAPP TAAVGRYLLKIHIDSFQGSVT
Mouse IASLEANRANSLEVSLCAPP IAAVGRYLLKIRIDSYQGFVT
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
2 – 720 Protein-glutamine gamma-glutamyltransferase 5
64 – 145 Missing. In isoform Short.
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
Cassidy A.J.; van Steensel M.A.M.; Steijlen P.M.; van Geel M.; van der Velden J.; Morley S.M.; Terrinoni A.; Melino G.; Candi E.; McLean W.H.I.;
Am. J. Hum. Genet. 77:909-917(2005)
Cited for: VARIANT PSS2 CYS-113; VARIANT MET-109; CHARACTERIZATION OF VARIANT PSS2 CYS-113; CHARACTERIZATION OF VARIANT MET-109;
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.