Variant position: 1281 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 NDDNRPIGPMKKVLVDNPKN RMLLIENLRESQPYRYTVKAR
Mouse NEDNRPIGPMKKVLVDNPKN RMLLIENLRESQPYRYTVKAR
Rat NEDNRPIGPMKKVLVDNPKN RMLLIENLRESQPYRYTVKAR
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
28 – 1822 Integrin beta-4
734 – 1822 Cytoplasmic
1222 – 1321 Fibronectin type-III 2
965 – 1822 Missing. In isoform Beta-4E.
Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.
Koster J.; Geerts D.; Favre B.; Borradori L.; Sonnenberg A.;
J. Cell Sci. 116:387-399(2003)
Cited for: FUNCTION; INTERACTION WITH COL17A1 AND DST; CHARACTERIZATION OF VARIANT TRP-1281; SUBCELLULAR LOCATION;
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;
Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
Kambham N.; Tanji N.; Seigle R.L.; Markowitz G.S.; Pulkkinen L.; Uitto J.; D'Agati V.D.;
Am. J. Kidney Dis. 36:190-196(2000)
Cited for: VARIANT EB-PA TRP-1281;
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