UniProtKB/Swiss-Prot P04264: Variant p.Lys633Arg

Keratin, type II cytoskeletal 1
Gene: KRT1
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Variant information Variant position:

633 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Lysine (K) to Arginine (R) at position 633 (K633R, p.Lys633Arg). 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 large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Polymorphism:

There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61 and 0.39. Allele 1B lacks 7 residues compared to allele 1A. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs14024 [ dbSNP | Ensembl ]

Sequence information Variant position:

633 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

644 The length of the canonical sequence.
Location on the sequence:

IGGRGSSSGGVKSSGGSSSV K FVSTTYSGVTR 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                         IGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR

                              SGGRGSSSGGIKTSSGSSSVKFVSTSYSRAVR

Chimpanzee                    IGGRGSSSGGVKSSGGSSSVKFVSTTYSGVTR

Mouse                         RGGSSSGGGGVKSS-GSSTVKFVSTSYSRGTK

Rat                           RGG-SSSGGGVKSS-GSSSVKFVSTTYSRGTN

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
Chain	2 – 644	Keratin, type II cytoskeletal 1
Region	490 – 644	Tail
Region	568 – 644	Disordered
Compositional bias	602 – 644	Polar residues

Literature citations
Structure of a gene for the human epidermal 67-kDa keratin.
Johnson L.D.; Idler W.W.; Zhou X.-M.; Roop D.R.; Steinert P.M.;
Proc. Natl. Acad. Sci. U.S.A. 82:1896-1900(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASN-358 AND ARG-633; Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.
Whittock N.V.; Eady R.A.J.; McGrath J.A.;
Biochem. Biophys. Res. Commun. 274:149-152(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASN-358 AND ARG-633; Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
Hatsell S.J.; Eady R.A.J.; Wennerstrand L.; Dopping-Hepenstal P.J.; Leigh I.M.; Munro C.; Kelsell D.P.;
J. Invest. Dermatol. 116:606-609(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; INVOLVEMENT IN EPPK2; VARIANT ARG-633; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ARG-633; Amino acid sequences of mouse and human epidermal type II keratins of Mr 67,000 provide a systematic basis for the structural and functional diversity of the end domains of keratin intermediate filament subunits.
Steinert P.M.; Parry D.A.D.; Idler W.W.; Johnson L.D.; Steven A.C.; Roop D.R.;
J. Biol. Chem. 260:7142-7149(1985)
Cited for: PRELIMINARY NUCLEOTIDE SEQUENCE [MRNA] OF 152-644; VARIANTS CYS-537 AND ARG-633;

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.