Variant position: 461 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 533 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 MRLSSLHKDRPVEPLDLAVF WVEFVMRHKGAPHLRPAAHDL
Mouse MRLSSLHKDRPIEPLDLAVF WVEYVMRHKGAPHLRPAAHDL
Rat MRLSSLHKDRPIEPLDLAVF WVEYVMRHKGAPHLRPAAHDL
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
26 – 533 UDP-glucuronosyltransferase 1-1
435 – 533 SYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH -> RKKQQSGRQM. In isoform 2.
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
Servedio V.; d'Apolito M.; Maiorano N.; Minuti B.; Torricelli F.; Ronchi F.; Zancan L.; Perrotta S.; Vajro P.; Boschetto L.; Iolascon A.;
Hum. Mutat. 25:325-325(2005)
Cited for: VARIANTS CN1 GLN-336; ARG-357; PHE-375; SER-387 AND VAL-395; VARIANTS CN2 GLN-34; PHE-170 DEL; TRP-209; GLY-225; LEU-336; TRP-336; ARG-354; CYS-403 AND ASP-478; VARIANTS CN1/CN2 VAL-377 AND ARG-461;
Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
D'Apolito M.; Marrone A.; Servedio V.; Vajro P.; De Falco L.; Iolascon A.;
Cited for: VARIANT CN1 PHE-171 DEL; VARIANTS CN2 TYR-279; ARG-354; VAL-370; VAL-395; PRO-443 AND ARG-461;
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