Variant position: 419 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 KILLDVKTRLEQEIATYRRL LEGEDAHLSS------SQFSSG--SQSSR
Mouse KILLDVKTRLEQEIATYRRL LEGEDAHLSSSQFSSSSQFSS
Rat KILLDVKTRLEQEIATYRRL LEGEDAHLSSAQFSSSSQFSS
Chicken RVLLDVKCRLEQEIATYRRL LEGEDAHISS-------QYSS
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.
Genomic keratin 14 mutation detection in epidermolysis bullosa simplex.
Hut P.H.L.; van der Vlies P.; Jonkman M.F.; Shimizu H.; Buys C.H.C.M.; Scheffer H.;
Cited for: VARIANT K-EBS HIS-415; VARIANT DM-EBS GLN-419;
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis.
Hut P.H.L.; van der Vlies P.; Jonkman M.F.; Verlind E.; Shimizu H.; Buys C.H.C.M.; Scheffer H.;
J. Invest. Dermatol. 114:616-619(2000)
Cited for: VARIANTS DM-EBS CYS-125; HIS-125 AND GLN-419; VARIANTS K-EBS ASP-247 AND HIS-415; VARIANT WC-EBS LYS-422;
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut P.H.L.; Vlies P.; Jonkman M.F.; Waanders E.; Buys C.H.C.M.; Scheffer H.;
Hum. Mutat. 21:447-447(2003)
Cited for: VARIANTS DM-EBS PRO-130 AND GLN-419; VARIANT WC-EBS MET-408;
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.