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UniProtKB/Swiss-Prot P02533: Variant p.Val133Leu

Keratin, type I cytoskeletal 14
Gene: KRT14
Variant information

Variant position:  133
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Valine (V) to Leucine (L) at position 133 (V133L, p.Val133Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  In WC-EBS and K-EBS.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  133
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:   GSEKVTMQNLNDRLASYLDK  V RALEEANADLEVKIRDWYQR
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                         GSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQR

Mouse                         GSEKVTMQNLNDRLATYLDKVRALEEANTELEVKIRDWYQR

Rat                           GSEKVTMQNLNDRLATYLDKVRALEEANSDLEVKIRDWYQR

Chicken                       AGEKETMQNLNDRLAAYLDKVRALEEANTDLEVKIREWYKK

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.

TypePositionsDescription
Chain 1 – 472 Keratin, type I cytoskeletal 14
Domain 115 – 426 IF rod
Region 115 – 150 Coil 1A


Literature citations

Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.
Csikos M.; Szalai Z.; Becker K.; Sebok B.; Schneider I.; Horvath A.; Karpati S.;
Exp. Dermatol. 13:185-191(2004)
Cited for: VARIANTS DM-EBS LYS-123 AND GLY-125; VARIANT WC-EBS LEU-133;

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 DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417; VARIANTS K-EBS LEU-133; THR-272 AND PRO-384; VARIANTS WC-EBS PRO-211 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.