UniProtKB/Swiss-Prot P35348 : Variant p.Cys347Arg
Alpha-1A adrenergic receptor
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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:
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:
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Other resources:
Links to websites of interest for the variant.
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:
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 PCSSQEFKKAFQNVLRIQCLC RKQSSKHALGYTLHPPSQAV
Mouse PCSSQEFKKAFQNVLRIQCLR RRQSSKHALGYTLHPPSQAV
Rat PCSSQEFKKAFQNVLRIQCLR RRQSSKHALGYTLHPPSQAL
Bovine PCSSQEFKKAFQNVLRIQCLR RKQSSKHTLGYTLHAPSHVL
Rabbit PCSSQEFKKAFQNVLKIQCLR RKQSSKHALGYTLHAPSQAL
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;
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.
