Sequence information
Variant position: 388 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 432 The length of the canonical sequence.
Location on the sequence:
KILLDVKTRLEQEIATYRRL
L EGEDAHLTQYKKEPVTTRQV
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 KILLDVKTRLEQEIATYRRLL EGEDAHLTQYK-KEPVTTRQV
Chimpanzee KILLDVKTRLEQEIATYRRLL EGEDAHLTQYK-KEPVTTRQ
Mouse KILLDVKTRLEQEIATYRRLL EGEDAHLTQYKPKEPVTTRQ
Rat KILLDVKTRLEQEIATYRRLL EGEDAHLTQYKPKEPVTTRQ
Bovine KILLDVKTRLEQEIATYRRLL EGEDAHLTQYKTKEPVTTRQ
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
Chain
1 – 432
Keratin, type I cytoskeletal 17
Domain
84 – 395
IF rod
Region
251 – 392
Coil 2
Cross
399 – 399
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross
399 – 399
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Cross
400 – 400
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross
400 – 400
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Literature citations
The genetic basis of pachyonychia congenita.
Smith F.J.; Liao H.; Cassidy A.J.; Stewart A.; Hamill K.J.; Wood P.; Joval I.; van Steensel M.A.; Bjoerck E.; Callif-Daley F.; Pals G.; Collins P.; Leachman S.A.; Munro C.S.; McLean W.H.;
J. Investig. Dermatol. Symp. Proc. 10:21-30(2005)
Cited for: VARIANTS PC2 SER-92 AND PRO-388;
Disclaimer:
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.