Variant position: 252 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:
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 PEGGFDAILQTAVCTRDIGW RPDSTHLLVFSTESAFHYEAD
Mouse PEGGFDAILQTAVCTRDIGW RADSTHLLVFSTESAFHYEAD
Rat PEGGFDAILQTAVCTRDIGW RADSTHLLVFSTESAFHYEAD
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.
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
Pulkkinen L.; Rouan F.; Bruckner-Tuderman L.; Wallerstein R.; Garzon M.; Brown T.; Smith L.; Carter W.G.; Uitto J.;
Am. J. Hum. Genet. 63:1376-1387(1998)
Cited for: VARIANTS EB-PA TYR-61; CYS-252; ARG-562 AND TRP-1281;
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 EB-PA TYR-131; CYS-252; ASP-273; CYS-283; ASP-325; PRO-336 AND HIS-1225; VARIANT GLN-1216;
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.