Variant position: 231 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 394 The length of the canonical sequence.
Location on the sequence:
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 KFQVDKVNFHMFDVGGQRDE RRKWIQCFNDVTAIIFVVASS
Mouse KFQVDKVNFHMFDVGGQRDE RRKWIQCFNDVTAIIFVVASS
Rat KFQVDKVNFHMFDVGGQRDE RRKWIQCFNDVTAIIFVVASS
Bovine KFQVDKVNFHMFDVGGQRDE RRKWIQCFNDVTAIIFVVASS
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
2 – 394 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
39 – 394 G-alpha
227 – 227 Q -> L. Increases binding to GAS2L2; when associated with N-295.
228 – 237
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
Farfel Z.; Iiri T.; Shapira H.; Roitman A.; Mouallem M.; Bourne H.R.;
J. Biol. Chem. 271:19653-19655(1996)
Cited for: CHARACTERIZATION OF VARIANT AHO HIS-231; FUNCTION;
Conditional activation defect of a human Gsalpha mutant.
Iiri T.; Farfel Z.; Bourne H.R.;
Proc. Natl. Acad. Sci. U.S.A. 94:5656-5661(1997)
Cited for: CHARACTERIZATION OF VARIANT AHO HIS-231;
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
Ishikawa Y.; Tajima T.; Nakae J.; Nagashima T.; Satoh K.; Okuhara K.; Fujieda K.;
J. Hum. Genet. 46:426-430(2001)
Cited for: VARIANT AHO HIS-231;
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