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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16144: Variant p.Leu156Pro

Integrin beta-4
Gene: ITGB4
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Variant information Variant position: help 156 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 Leucine (L) to Proline (P) at position 156 (L156P, p.Leu156Pro). 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 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: help -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

Variant description: help In JEB5B. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 156 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1822 The length of the canonical sequence.
Location on the sequence: help MDFSNSMSDDLDNLKKMGQN L ARVLSQLTSDYTIGFGKFVD 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                         MDFSNSMSDDLDNLKKMGQNLARVLSQLTSDYTIGFGKFVD

Mouse                         MDFSNSMSDDLDNLKQMGQNLAKILRQLTSDYTIGFGKFVD

Rat                           MDFSNSMSDDLDNLKQMGQNLAKILRQLTSDYTIGFGKFVD

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 28 – 1822 Integrin beta-4
Topological domain 28 – 710 Extracellular
Domain 131 – 329 VWFA
Binding site 139 – 139 in MIDAS binding site
Binding site 141 – 141 in ADMIDAS binding site
Binding site 141 – 141 in MIDAS binding site
Binding site 144 – 144 in ADMIDAS binding site
Binding site 145 – 145 in ADMIDAS binding site
Binding site 176 – 176 in LIMBS binding site
Disulfide bond 38 – 455



Literature citations
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta-4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.
Pulkkinen L.; Bruckner-Tuderman L.; August C.; Uitto J.;
Am. J. Pathol. 152:935-941(1998)
Cited for: VARIANT JEB5B PRO-156;
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.