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:
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 KILLDVKTRLEQEIATYRRL LEGEDAHLTQYK-KEPVTTRQV
Chimpanzee KILLDVKTRLEQEIATYRRL LEGEDAHLTQYK-KEPVTTRQ
Mouse KILLDVKTRLEQEIATYRRL LEGEDAHLTQYKPKEPVTTRQ
Rat KILLDVKTRLEQEIATYRRL LEGEDAHLTQYKPKEPVTTRQ
Bovine KILLDVKTRLEQEIATYRRL LEGEDAHLTQYKTKEPVTTRQ
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 – 432 Keratin, type I cytoskeletal 17
84 – 395 IF rod
251 – 392 Coil 2
399 – 399 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
399 – 399 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
400 – 400 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
400 – 400 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
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;
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.