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UniProtKB/Swiss-Prot P35348: Variant p.Cys347Arg

Alpha-1A adrenergic receptor
Gene: ADRA1A
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Variant information Variant position: help 347
Type of variant: help LB/B
Residue change: help From Cysteine (C) to Arginine (R) at position 347 (C347R, p.Cys347Arg).
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 347
Protein sequence length: help 466
Location on the sequence: help PCSSQEFKKAFQNVLRIQCL C RKQSSKHALGYTLHPPSQAV
Residue conservation: help
Human                         PCSSQEFKKAFQNVLRIQCLCRKQSSKHALGYTLHPPSQAV

Mouse                         PCSSQEFKKAFQNVLRIQCLRRRQSSKHALGYTLHPPSQAV

Rat                           PCSSQEFKKAFQNVLRIQCLRRRQSSKHALGYTLHPPSQAL

Bovine                        PCSSQEFKKAFQNVLRIQCLRRKQSSKHTLGYTLHAPSHVL

Rabbit                        PCSSQEFKKAFQNVLKIQCLRRKQSSKHALGYTLHAPSQAL

Sequence annotation in neighborhood: help
TypePositionsDescription
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.