Variant position: 150 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 151 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 CFGGRMDRIGAQSGLGCNSF RY--
Mouse CFGGRIDRIGAQSGLGCNSF RY
Rat CFGGRIDRIGAQSGLGCNSF RY
Pig CFGGRMDRIGAQSGLGCNSF RY
Bovine CFGGRMDRIGAQSGLGCNSF RY
Rabbit CFGGRIDRIGAQSGLGCNSF RY
Sheep CFGGRMDRIGAQSGLGCNSF RY
Cat CFGGRMDRIGAQSGLGCNSF RY
Horse CFGGRMDRIGAQSGLGCNSF RY
Chicken CFGRRIDRIGSLSGMGCNGS RK
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
26 – 151 Natriuretic peptides A
119 – 151 Auriculin-C
120 – 151 Urodilatin
124 – 151 Atrial natriuretic peptide
127 – 151 Auriculin-B
127 – 150 Auriculin-A
128 – 151 Atriopeptin-3
128 – 150 Atriopeptin-2
147 – 151 Important for degradation of atrial natriuretic peptide by IDE
147 – 151 Missing. Reduced degradation of atrial natriuretic peptide by IDE; when associated with S-124--126-R DEL.
Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of natriuretic peptide precursor A.
Disertori M.; Quintarelli S.; Grasso M.; Pilotto A.; Narula N.; Favalli V.; Canclini C.; Diegoli M.; Mazzola S.; Marini M.; Del Greco M.; Bonmassari R.; Mase M.; Ravelli F.; Specchia C.; Arbustini E.;
Circ. Cardiovasc. Genet. 6:27-36(2013)
Cited for: INVOLVEMENT IN ATRST2; VARIANT ATRST2 GLN-150;
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.