UniProtKB/Swiss-Prot P35348: Variant p.Cys347Arg

Alpha-1A adrenergic receptor
Gene: ADRA1A
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Variant information Variant position:

347 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 Cysteine (C) to Arginine (R) at position 347 (C347R, p.Cys347Arg). 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 medium size and polar (C) to large size and basic (R) 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 rs1048101 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PCSSQEFKKAFQNVLRIQCL C RKQSSKHALGYTLHPPSQAV 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                         PCSSQEFKKAFQNVLRIQCLCRKQSSKHALGYTLHPPSQAV

Mouse                         PCSSQEFKKAFQNVLRIQCLRRRQSSKHALGYTLHPPSQAV

Rat                           PCSSQEFKKAFQNVLRIQCLRRRQSSKHALGYTLHPPSQAL

Bovine                        PCSSQEFKKAFQNVLRIQCLRRKQSSKHTLGYTLHAPSHVL

Rabbit                        PCSSQEFKKAFQNVLKIQCLRRKQSSKHALGYTLHAPSQAL

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 – 466	Alpha-1A adrenergic receptor
Topological domain	330 – 466	Cytoplasmic
Motif	334 – 349	Nuclear localization signal
Lipidation	345 – 345	S-palmitoyl cysteine
Alternative sequence	295 – 466	GSFFPDFKPSETVFKIVFWLGYLNSCINPIIYPCSSQEFKKAFQNVLRIQCLCRKQSSKHALGYTLHPPSQAVEGQHKDMVRIPVGSRETFYRISKTDGVCEWKFFSSMPRGSARITVSKDQSSCTTARVRSKSFLQVCCCVGPSTPSLDKNHQVPTIKVHTISLSENGEEV -> DEVSLCHQAGVQWHDLGSLQPPPPGFKRFSCLSLPSSWDYRDVPPGRRHQAQLIFVFLVETGFHHVGQDDLDLLTS. In isoform 8.
Alternative sequence	296 – 466	SFFPDFKPSETVFKIVFWLGYLNSCINPIIYPCSSQEFKKAFQNVLRIQCLCRKQSSKHALGYTLHPPSQAVEGQHKDMVRIPVGSRETFYRISKTDGVCEWKFFSSMPRGSARITVSKDQSSCTTARVRSKSFLQVCCCVGPSTPSLDKNHQVPTIKVHTISLSENGEEV -> THTHDMKPASRPRLLSLLPKEGEHETHHWSCDPLSLESTPGAQEPCLTLGFTSLSSIHLTKAQIQHVTVTDTGKTVT. In isoform 9.
Alternative sequence	298 – 466	Missing. In isoform 5.
Alternative sequence	325 – 466	Missing. In isoform 7.
Alternative sequence	343 – 466	Missing. In isoform 6.
Mutagenesis	334 – 334	K -> A. Abolishes targeting to the nuclear membrane of cardiac myocytes; when associated with A-335; A-342; A-348 and A-349.
Mutagenesis	335 – 335	K -> A. Abolishes targeting to the nuclear membrane of cardiac myocytes; when associated with A-334; A-342; A-348 and A-349.
Mutagenesis	342 – 342	R -> A. Abolishes targeting to the nuclear membrane of cardiac myocytes; when associated with A-334; A-335; A-348 and A-349.
Mutagenesis	348 – 348	R -> A. Abolishes targeting to the nuclear membrane of cardiac myocytes; when associated with A-334; A-335; A-342 and A-349.
Mutagenesis	349 – 349	K -> A. Abolishes targeting to the nuclear membrane of cardiac myocytes; when associated with A-334; A-335; A-342 and A-348.

Literature citations
Cloning, functional expression and tissue distribution of human cDNA for the alpha 1C-adrenergic receptor.
Hirasawa A.; Horie K.; Tanaka T.; Takagaki K.; Murai M.; Yano J.; Tsujimoto G.;
Biochem. Biophys. Res. Commun. 195:902-909(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANT ARG-347; Cloning, expression and characterization of human alpha adrenergic receptors alpha 1a, alpha 1b and alpha 1c.
Weinberg D.H.; Trivedi P.; Tan C.P.; Mitra S.; Perkins-Barrow A.; Borkowski D.; Strader C.D.; Bayne M.;
Biochem. Biophys. Res. Commun. 201:1296-1304(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-347; The alpha 1C-adrenoceptor in human prostate: cloning, functional expression, and localization to specific prostatic cell types.
Tseng-Crank J.; Kost T.; Goetz A.; Hazum S.; Roberson K.M.; Haizlip J.; Godinot N.; Robertson C.N.; Saussy D.;
Br. J. Pharmacol. 115:1475-1485(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-347; Cloning, functional expression and tissue distribution of human alpha 1c-adrenoceptor splice variants.
Hirasawa A.; Shibata K.; Horie K.; Takei Y.; Obika K.; Tanaka T.; Muramoto N.; Takagaki K.; Yano J.; Tsujimoto G.;
FEBS Lett. 363:256-260(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3); VARIANT ARG-347; TISSUE SPECIFICITY; Cloning and pharmacological characterization of human alpha-1 adrenergic receptors: sequence corrections and direct comparison with other species homologues.
Schwinn D.A.; Johnston G.I.; Page S.O.; Mosley M.J.; Wilson K.H.; Worman N.P.; Campbell S.; Fidock M.D.; Furness L.M.; Parry-Smith D.J.; Peter B.; Bailey D.S.;
J. Pharmacol. Exp. Ther. 272:134-142(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-347; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ARG-347; Identification of alpha 1-adrenoceptor subtypes present in the human prostate.
Faure C.; Pimoule C.; Vallancien G.; Langer S.Z.; Graham D.;
Life Sci. 54:1595-1605(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 52-400 (ISOFORMS 1/2/3/4); TISSUE SPECIFICITY; VARIANT ARG-347; Alpha 1a-adrenoceptor polymorphism: pharmacological characterization and association with benign prostatic hypertrophy.
Shibata K.; Hirasawa A.; Moriyama N.; Kawabe K.; Ogawa S.; Tsujimoto G.;
Br. J. Pharmacol. 118:1403-1408(1996)
Cited for: VARIANT ARG-347; Alpha 1A-adrenergic receptor polymorphism and vascular response.
Sofowora G.G.; Dishy V.; Landau R.; Xie H.G.; Prasad H.C.; Byrne D.W.; Smiley R.M.; Kim R.B.; Wood A.J.; Stein C.M.;
Clin. Pharmacol. Ther. 75:539-545(2004)
Cited for: VARIANT ARG-347;

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