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UniProtKB/Swiss-Prot P16144: Variant p.Gly273Asp

Integrin beta-4
Gene: ITGB4
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Variant information Variant position: help 273
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Aspartate (D) at position 273 (G273D, p.Gly273Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help In JEB5B.
Other resources: help


Sequence information Variant position: help 273
Protein sequence length: help 1822
Location on the sequence: help PDSTHLLVFSTESAFHYEAD G ANVLAGIMSRNDERCHLDTT
Residue conservation: help 
Human                         PDSTHLLVFSTESAFHYEADGANVLAGIMSRNDERCHLDTT

Mouse                         ADSTHLLVFSTESAFHYEADGANVLAGIMNRNDEKCHLDAS

Rat                           ADSTHLLVFSTESAFHYEADGANVLAGIMNRNDEKCHLDAT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 1822 Integrin beta-4
Topological domain 28 – 710 Extracellular
Domain 131 – 329 VWFA
Disulfide bond 38 – 455
Disulfide bond 245 – 288



Literature citations
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Nakano A.; Pulkkinen L.; Murrell D.; Rico J.; Lucky A.W.; Garzon M.; Stevens C.A.; Robertson S.; Pfendner E.; Uitto J.;
Pediatr. Res. 49:618-626(2001)
Cited for: VARIANTS JEB5B TYR-131; CYS-252; ASP-273; CYS-283; ASP-325; PRO-336 AND HIS-1225; VARIANT GLN-1216;
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.