Variant position: 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 414 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 GTVMLLANYIFFRARWKHEF DPNVTKEEDFFLEKNSSVKVP
Mouse GTVMILTNYIYFRGRWQYEF DPKQTKEEEFFIEKGKTVKVP
Rat GTVMLLTNYIYFQGRWQYEF DPKQTKEEDFFIEEGKTVKVP
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
21 – 414 Serpin A12
221 – 221 N-linked (GlcNAc...) (complex) asparagine
233 – 233 N-linked (GlcNAc...) (complex) asparagine
221 – 221 N -> A. Reduced N-glycosylation. Loss of N-glycosylation; when associated with A-233 and A-267.
233 – 233 N -> A. Reduced N-glycosylation. Loss of N-glycosylation; when associated with A-221 and A-267.
Mutations in the pH-sensing G-protein-coupled receptor GPR68 cause amelogenesis imperfecta.
Parry D.A.; Smith C.E.; El-Sayed W.; Poulter J.A.; Shore R.C.; Logan C.V.; Mogi C.; Sato K.; Okajima F.; Harada A.; Zhang H.; Koruyucu M.; Seymen F.; Hu J.C.; Simmer J.P.; Ahmed M.; Jafri H.; Johnson C.A.; Inglehearn C.F.; Mighell A.J.;
Am. J. Hum. Genet. 99:984-990(2016)
Cited for: VARIANT GLY-219;
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