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[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1093/nar/17.11.4391; PubMed=2740233 [NCBI, ExPASy, EBI, Israel, Japan]
Beeson D.M.W.,
Brydson M.,
Newsom-Davis J.;
"Nucleotide sequence of human muscle acetylcholine receptor beta-subunit.";
Nucleic Acids Res. 17:4391-4391(1989).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Eye;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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VARIANT SCCMS MET-285.
DOI=10.1002/ana.410390607; PubMed=8651643 [NCBI, ExPASy, EBI, Israel, Japan]
Gomez C.M.,
Maselli R.,
Gammack J.,
Lasalde J.,
Tamamizu S.,
Cornblath D.R.,
Lehar M.,
McNamee M.,
Kuncl R.W.;
"A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome.";
Ann. Neurol. 39:712-723(1996).
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[4]
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VARIANT SCCMS MET-289.
DOI=10.1093/hmg/5.9.1217; PubMed=8872460 [NCBI, ExPASy, EBI, Israel, Japan]
Engel A.G.,
Ohno K.,
Milone M.,
Wang H.-L.,
Nakano S.,
Bouzat C.,
Pruitt J.N. II,
Hutchinson D.O.,
Brengman J.M.,
Bren N.,
Sieb J.P.,
Sine S.M.;
"New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.";
Hum. Mol. Genet. 5:1217-1227(1996).
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[5]
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VARIANT ACHRDCMS 449-GLU--GLU-451 DEL, AND CHARACTERIZATION OF VARIANT ACHRDCMS 449-GLU--GLU-451 DEL.
PubMed=10562302 [NCBI, ExPASy, EBI, Israel, Japan]
Quiram P.A.,
Ohno K.,
Milone M.,
Patterson M.C.,
Pruitt J.N. II,
Brengman J.M.,
Sine S.M.,
Engel A.G.;
"Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.";
J. Clin. Invest. 104:1403-1410(1999).
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- FUNCTION: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
- SUBUNIT: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.
- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
- DISEASE: Defects in CHRNB1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMS is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.
- DISEASE: Defects in CHRNB1 are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]. ACHRDCMS is a post-synaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance.
- SIMILARITY: Belongs to the ligand-gated ionic channel (TC 1.A.9) family [view classification].
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=CHRNB1";.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 501 AA [This is the length of the unprocessed precursor] |
Molecular weight: 56698 Da [This is the MW of the unprocessed precursor] |
CRC64: 365CBFA795A51394 [This is a checksum on the sequence] |
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10 20 30 40 50 60
MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD RVRVSVGLIL
70 80 90 100 110 120
AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS LRITAESVWL PDVVLLNNND
130 140 150 160 170 180
GNFDVALDIS VVVSSDGSVR WQPPGIYRSS CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS
190 200 210 220 230 240
LQTGLGPDGQ GHQEIHIHEG TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI
250 260 270 280 290 300
IRRKPLFYLV NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE
310 320 330 340 350 360
TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF IHKLPLYLRL
370 380 390 400 410 420
KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL FPKPNRFQPE LSAPDLRRFI
430 440 450 460 470 480
DGPNRAVALL PELREVVSSI SYIARQLQEQ EDHDALKEDW QFVAMVVDRL FLWTFIIFTS
490 500
VGTLVIFLDA TYHLPPPDPF P
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P11230 in FASTA format |
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ExPASy Home page
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