Variant position: 373 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 381 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 PRFERVLGPCSDILKRNIQQ YNSFVSLSV
Mouse PRFERVLGPCSDILKRNIQQ YNSFVSLSV
Rat PRFERVLGPCSDILKRNIQQ YNSFVSLSV
Pig PRFERVLGPCSDILKRNIQQ YNSFVSLSV
Bovine PRFERVLGPCSDILKRNIQQ YNSFVSLSV
Chicken PRFERVLGPCSDILKRNIQQ YNSFVSLSV
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
1 – 381 cAMP-dependent protein kinase type I-alpha regulatory subunit
255 – 381 cAMP 2
338 – 381 Missing. In isoform 2.
373 – 373 Y -> A. Impairs response of PKA to c-AMP.
371 – 376
Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Muhn F.; Klopocki E.; Graul-Neumann L.; Uhrig S.; Colley A.; Castori M.; Lankes E.; Henn W.; Gruber-Sedlmayr U.; Seifert W.; Horn D.;
Clin. Genet. 84:531-538(2013)
Cited for: VARIANTS ACRDYS1 THR-213 AND CYS-373; VARIANT ASN-227;
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.