Variant position: 280 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 DNQTNRLQEALNLFKSIWNN RWLRTISVILFLNKQDLLAEK
Mouse DNQTNRLQEALNLFKSIWNN RWLRTISVILFLNKQDLLAEK
Rat DNQTNRLQEALNLFKSIWNN RWLRTISVILFLNKQDLLAEK
Bovine DNQTNRLQEALNLFKSIWNN RWLRTISVILFLNKQDLLAEK
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
300 – 300 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
295 – 295 D -> N. Increases binding to GAS2L2; when associated with L-227.
280 – 282
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.
Linglart A.; Carel J.-C.; Garabedian M.; Le T.; Mallet E.; Kottler M.-L.;
J. Clin. Endocrinol. Metab. 87:189-197(2002)
Cited for: VARIANTS PHP1A ASN-156; MET-159 AND LYS-280;
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