UniProtKB/Swiss-Prot Q4U2R8 : Variant p.Arg50His
Solute carrier family 22 member 6
Gene: SLC22A6
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Variant information
Variant position:
50
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 Histidine (H) at position 50 (R50H, p.Arg50His).
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 medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
0
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:
Lower Vmax; increase in substrate affinity and increase in the affinity for the nucleoside phosphonate analogs cidofovir, adefovir and tenofovir.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
50
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
563
The length of the canonical sequence.
Location on the sequence:
LMASHNTLQNFTAAIPTHHC
R PPADANLSKNGGLEVWLPRD
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 LMASHNTLQNFTAAIPTHHCR PPADANLSKNGGLEVW---LPRD
Mouse LMASHNTLQNFTAAIPAHHCR PPANANLSKDGGLEAW---L
Rat LMASHNTLQNFTAAIPPHHCR PPANANLSKDGGLEAW---L
Pig LMASHNTLQNFTAAIPAHHCR PPADTNLSRDTELEAW---L
Bovine LLASHNTLQNFTAAIPTHHCR PPADTNLSEDGDLEAW---L
Rabbit LMASHNTLQNFTAAIPPHHCR PPAHANLSKDGGLQAW---L
Zebrafish MMASHNLLQNFVAAVPPHHCQ PHANLSMSSTDAVDVLRATV
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 – 563
Solute carrier family 22 member 6
Topological domain
31 – 135
Extracellular
Glycosylation
39 – 39
N-linked (GlcNAc...) asparagine
Glycosylation
56 – 56
N-linked (GlcNAc...) asparagine
Mutagenesis
30 – 30
L -> A. Complete loss of PAH transport activity.
Mutagenesis
36 – 36
T -> A. Complete loss of PAH transport activity.
Mutagenesis
39 – 39
N -> Q. Complete loss of PAH transport activity.
Literature citations
Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6).
Bleasby K.; Hall L.A.; Perry J.L.; Mohrenweiser H.W.; Pritchard J.B.;
J. Pharmacol. Exp. Ther. 314:923-931(2005)
Cited for: VARIANT HIS-50; CHARACTERIZATION OF VARIANT HIS-50; MISCELLANEOUS;
Analyses of coding region polymorphisms in apical and basolateral human organic anion transporter (OAT) genes [OAT1 (NKT), OAT2, OAT3, OAT4, URAT (RST)].
Xu G.; Bhatnagar V.; Wen G.; Hamilton B.A.; Eraly S.A.; Nigam S.K.;
Kidney Int. 68:1491-1499(2005)
Cited for: VARIANTS PRO-7 AND HIS-50;
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.