UniProtKB/Swiss-Prot O15245: Variant p.Phe41Leu

Solute carrier family 22 member 1
Gene: SLC22A1
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Variant information Variant position:

41 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 Phenylalanine (F) to Leucine (L) at position 41 (F41L, p.Phe41Leu). 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 aromatic (F) to medium size and hydrophobic (L) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2297373 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AFLILCLLSAAFAPICVGIV F LGFTPDHHCQSPGVAELSQR 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                         AFLILCLLSAAFAPICVGIVFLGFTPDHHCQSPGVAELSQR

Mouse                         AFLLLCLISASLAPIYVGIVFLGFTPDHHCRSPGVAELSQR

Rat                           AFLLLCLISASLAPIYVGIVFLGFTPGHYCQNPGVAELSQR

Pig                           AFLNLCLTSVAFAPIYVGIVFLGFTPDHRCRSPGVAELSQR

Bovine                        TFLILCLLSAAFAPIYVGIVFLAFTPDHRCRSPGVAELSRR

Rabbit                        TFLFLCLISAILAPIYLGIVFLGFTPDHRCRSPGVDELSQR

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 – 554	Solute carrier family 22 member 1
Transmembrane	22 – 42	Helical
Mutagenesis	24 – 24	I -> L. No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake.
Mutagenesis	28 – 28	L -> I. No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake.
Mutagenesis	31 – 31	A -> S. No change in fenoterol uptake. No change in trospium uptake. No change in terbutaline uptake.
Mutagenesis	32 – 32	F -> L. No change in fenoterol uptake. Decreased trospium uptake. Decreased trospium affinity.
Mutagenesis	36 – 36	C -> Y. Increased fenoterol uptake. Increased fenoterol affinity. No change in trospium uptake. No change in terbutaline uptake. No change in terbutaline affinity.
Helix	39 – 42

Literature citations
Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1).
Itoda M.; Saito Y.; Maekawa K.; Hichiya H.; Komamura K.; Kamakura S.; Kitakaze M.; Tomoike H.; Ueno K.; Ozawa S.; Sawada J.;
Drug Metab. Pharmacokinet. 19:308-312(2004)
Cited for: VARIANTS LEU-41; PHE-160; LEU-341 AND VAL-408;

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.