UniProtKB/Swiss-Prot Q53HV7: Variant p.Arg105Trp

Single-strand selective monofunctional uracil DNA glycosylase
Gene: SMUG1
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Variant information Variant position:

105 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Arginine (R) to Tryptophan (W) at position 105 (R105W, p.Arg105Trp). 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:

Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs3136389 [ dbSNP | Ensembl ]

Sequence information Variant position:

105 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

270 The length of the canonical sequence.
Location on the sequence:

NPGPFGMAQTGVPFGEVSMV R DWLGIVGPVLTPPQEHPKRP 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                         NPGPFGMAQTGVPFGEVSMVRDWLGIVGPVLTPPQEHPKRP

Mouse                         NPGPFGMAQTGVPFGEVNVVRDWLGVGGPVLTPPQEHPKRP

Rat                           NPGPFGMAQTGVPFGEVNVVRDWLGIGGSVLSPPQEHPKRP

Bovine                        NPGPFGMAQTGVPFGEVSVVRDWLGLGGPVRTPPQEHPKRP

Xenopus laevis                NPGPFGMAQTGVPFGEVNHVRDWLQIEGPVSKPEVEHPKRR

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
Chain	1 – 270	Single-strand selective monofunctional uracil DNA glycosylase
Binding site	98 – 98
Mutagenesis	85 – 85	N -> A. Markedly impaired damage-excising activity for U/G, hoU/G, hmU/A and fU/A. No cytosine-excising activity for C/G, C/A, C/T and C/C.
Mutagenesis	87 – 87	G -> AS. Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A.
Mutagenesis	87 – 87	G -> F. Loss of damage-excising activity.
Mutagenesis	89 – 89	F -> AGS. No effect on damage-excising activity for U/G, hoU/G, hmU/A and fU/A.
Mutagenesis	90 – 90	G -> A. Loss of damage-excising activity for U/G. Weak, but significant activity toward hoU/G, hmU/A and fU/A.
Mutagenesis	91 – 91	M -> A. No effect on damage-excising activity for U/G, hoU/G, hmU/A and fU/A.
Mutagenesis	98 – 98	F -> L. Impaired the damage-excising activity for U/G, hoU/G, hmU/A and fU/A.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-15 AND TRP-105;

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.