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UniProtKB/Swiss-Prot P16144: Variant p.Leu1779Pro

Integrin beta-4
Gene: ITGB4
Chromosomal location: 17q11-qter
Variant information

Variant position:  1779
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Proline (P) at position 1779 (L1779P, p.Leu1779Pro).
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:  -3
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

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



Sequence information

Variant position:  1779
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1822
The length of the canonical sequence.

Location on the sequence:   EYSSITTTHTSATEPFLVDG  L TLGAQHLEAGGSLTRHVTQE
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                         EYSSITTTH-TSATEPFLVDGLTLGAQHLEAGGSLTRHVTQE

Mouse                         EFSSVTSTH-STTTEPFLMDGLTLGTQRLEAGGSLTRHVTQ

Rat                           EYSTVTSTHSTTTTEPFLIDGLTLGTQRLEAGGSLTRHVTQ

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 28 – 1822 Integrin beta-4
Topological domain 734 – 1822 Cytoplasmic
Modified residue 1791 – 1791 Phosphoserine
Alternative sequence 965 – 1822 Missing. In isoform Beta-4E.


Literature citations

Amino acid sequence of a novel integrin beta 4 subunit and primary expression of the mRNA in epithelial cells.
Suzuki S.; Naitoh Y.;
EMBO J. 9:757-763(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM BETA-4A); VARIANT PRO-1779;

Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain.
Hogervorst F.; Kuikman I.; von Dem Borne A.E.G.K.; Sonnenberg A.;
EMBO J. 9:765-770(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM BETA-4B); VARIANT PRO-1779;

Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia.
Pulkkinen L.; Kurtz K.S.; Xu Y.; Bruckner-Tuderman L.; Uitto J.;
Lab. Invest. 76:823-833(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS BETA-4A; BETA-4B AND BETA-4C); VARIANTS SER-1764 AND PRO-1779;

Genomic organization of the human integrin beta 4 gene.
Iacovacci S.; Gagnoux-Palacios L.; Zambruno G.; Meneguzzi G.; D'Alessio M.;
Mamm. Genome 8:448-450(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS BETA-4A; BETA-4B AND BETA-4C); VARIANTS SER-1764 AND PRO-1779;

The unique cytoplasmic domain of the human integrin variant beta4E is produced by partial retention of intronic sequences.
van Leusden M.R.; Kuikman I.; Sonnenberg A.;
Biochem. Biophys. Res. Commun. 235:826-830(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM BETA-4E); VARIANT PRO-1779;

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] (ISOFORM BETA-4A); VARIANT PRO-1779;

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.