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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02533: Variant p.Arg125His

Keratin, type I cytoskeletal 14
Gene: KRT14
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Variant information Variant position: help 125 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Histidine (H) at position 125 (R125H, p.Arg125His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In EBS1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 125 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 472 The length of the canonical sequence.
Location on the sequence: help AGGDGLLVGSEKVTMQNLND R LASYLDKVRALEEANADLEV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AG--GDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEV

Mouse                         GGGIGDGLLVGSEKVTMQNLNDRLATYLDKVRALEEANTEL

Rat                           GGGLGDGLLVGSEKVTMQNLNDRLATYLDKVRALEEANSDL

Chicken                       GG--GDGILPAGEKETMQNLNDRLAAYLDKVRALEEANTDL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 472 Keratin, type I cytoskeletal 14
Domain 115 – 426 IF rod
Region 115 – 150 Coil 1A



Literature citations
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
Coulombe P.A.; Hutton M.E.; Letai A.; Hebert A.; Paller A.S.; Fuchs E.;
Cell 66:1301-1311(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126; VARIANTS EBS1A PHE-122; CYS-125 AND HIS-125; A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis.
Stephens K.; Sybert V.P.; Wijsman E.M.; Ehrlich P.; Spencer A.;
J. Invest. Dermatol. 101:240-243(1993)
Cited for: VARIANT EBS1A HIS-125; Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.
Shemanko C.S.; Horn H.M.; Keohane S.G.; Hepburn N.; Kerr A.I.G.; Atherton D.J.; Tidman M.J.; Lane E.B.;
Br. J. Dermatol. 142:315-320(2000)
Cited for: VARIANT EBS1A HIS-125; 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 EBS1A CYS-125; HIS-125 AND GLN-419; VARIANTS EBS1B ASP-247 AND HIS-415; VARIANT EBS1C LYS-422; Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Ciubotaru D.; Bergman R.; Baty D.; Indelman M.; Pfendner E.; Petronius D.; Moualem H.; Kanaan M.; Ben Amitai D.; McLean W.H.I.; Uitto J.; Sprecher E.;
Arch. Dermatol. 139:498-505(2003)
Cited for: VARIANT EBS1C CYS-415; VARIANT EBS1A HIS-125; VARIANT EBS1D HIS-388; Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K.; Sawamura D.; Goto M.; Nakamura H.; Jung S.-Y.; Kim S.-C.; Shimizu H.;
Br. J. Dermatol. 155:313-317(2006)
Cited for: VARIANT EBS1C VAL-119; VARIANTS EBS1A HIS-125 AND CYS-125; Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
Mueller F.B.; Kuester W.; Wodecki K.; Almeida H. Jr.; Bruckner-Tuderman L.; Krieg T.; Korge B.P.; Arin M.J.;
Hum. Mutat. 27:719-720(2006)
Cited for: VARIANTS EBS1A LYS-123; CYS-125; HIS-125 AND PRO-417; VARIANTS EBS1B LEU-133; THR-272 AND PRO-384; VARIANTS EBS1C PRO-211 AND GLU-411 DEL; Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K.; Oldak M.; Giza A.; Kutkowska-Kazmierczak A.; Sota J.; Przybylska D.; Wozniak K.; Sniegorska D.; Niepokoj K.; Sobczynska-Tomaszewska A.; Rygiel A.M.; Ploski R.; Bal J.; Kowalewski C.;
J. Appl. Genet. 57:175-181(2016)
Cited for: VARIANTS EBS1A THR-119; SER-123; CYS-125; HIS-125 AND ASP-129; VARIANTS EBS1C MET-133; ALA-270; THR-272; THR-413 AND GLN-418; VARIANTS EPIDERMOLYSIS BULLOSA SIMPLEX LEU-125; CYS-388 AND GLU-411 DEL;
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.