Variant position: 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 590 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 KTLNNKFASFIDKVRFLEQQ NKVLDTKWTLLQEQGTKTVRQ
Chimpanzee KTLNNKFASFIDKVRFLEQQ NKVLDTKWTLLQEQGTKTVRQ
Mouse KTLNNKFASFIDKVRFLEQQ NKVLDTKWALLQEQGTKTIKQ
Rat KTLNNKFASFIDKVRFLEQQ NKVLDTKWTLLQEQGTKTIKQ
Bovine KTLNNKFASFIDKVRFLEQQ NKVLDTKWALLQEQGTKTVRQ
Xenopus laevis KTLNNKFASFIDKVRFLEQQ NRVLETKWELLQNQKSAKA-S
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.
Clustering of epidermolysis bullosa simplex mutations in relation to disease phenotype: data from Weber-Cockayne EBS.
Smith F.J.D.; Morley S.M.; Rugg E.L.; Navsaria H.A.; Leigh I.M.; Eady R.A.J.; Tidman M.J.; Lane E.B.;
Cited for: VARIANT DM-EBS LYS-193;
Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.
Humphries M.M.; Mansergh F.C.; Kiang A.-S.; Jordan S.A.; Sheils D.M.; Martin M.J.; Farrar G.J.; Kenna P.F.; Young M.M.; Humphries P.;
Hum. Mutat. 8:57-63(1996)
Cited for: VARIANTS WC-EBS LYS-193 AND THR-327;
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
Garcia M.; Santiago J.L.; Terron A.; Hernandez-Martin A.; Vicente A.; Fortuny C.; De Lucas R.; Lopez J.C.; Cuadrado-Corrales N.; Holguin A.; Illera N.; Duarte B.; Sanchez-Jimeno C.; Llames S.; Garcia E.; Ayuso C.; Martinez-Santamaria L.; Castiglia D.; De Luca N.; Torrelo A.; Mechan D.; Baty D.; Zambruno G.; Escamez M.J.; Del Rio M.;
Br. J. Dermatol. 165:683-692(2011)
Cited for: VARIANTS WC-EBS GLU-186; LYS-193; PRO-321; VAL-328 AND THR-428; VARIANTS DM-EBS SER-165 AND LYS-477; VARIANT MP-EBS LEU-25; VARIANT K-EBS PRO-463;
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