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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22309: Variant p.Gly395Val

UDP-glucuronosyltransferase 1A1
Gene: UGT1A1
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Variant information Variant position: help 395 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 Glycine (G) to Valine (V) at position 395 (G395V, p.Gly395Val). 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 Change from glycine (G) to medium size and hydrophobic (V) 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 CN1; has no residual bilirubin glucuronidation activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 395 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 533 The length of the canonical sequence.
Location on the sequence: help SHGVYESICNGVPMVMMPLF G DQMDNAKRMETKGAGVTLNV 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                         SHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNV

Mouse                         SHGIYEGICNGVPMVMMPLFGDQMDNAKRMETRGAGVTLNV

Rat                           SHGIYEGICNGVPMVMMPLFGDQMDNAKRMETRGAGVTLNV
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 26 – 533 UDP-glucuronosyltransferase 1A1



Literature citations
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.;
Haematologica 92:133-134(2007)
Cited for: VARIANT CN1 PHE-171 DEL; VARIANTS CN2 TYR-279; ARG-354; VAL-370; VAL-395; PRO-443 AND ARG-461; Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
Sneitz N.; Bakker C.T.; de Knegt R.J.; Halley D.J.; Finel M.; Bosma P.J.;
Hum. Mutat. 31:52-59(2010)
Cited for: VARIANT CN1 THR-402; VARIANTS CN2 ARG-15; ARG-71; PHE-191; TRP-209; TRP-336; HIS-387; PRO-443 AND ASP-486; CHARACTERIZATION OF VARIANT CN1 THR-402; CHARACTERIZATION OF VARIANTS CN2 ARG-71; GLN-175; PHE-191; TRP-209; ARG-331; TRP-336; HIS-387; VAL-395 AND PRO-443; CATALYTIC ACTIVITY; FUNCTION; SUBSTRATE SPECIFICITY;
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.