Sequence information
Variant position: 173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 541 The length of the canonical sequence.
Location on the sequence:
LQLRLEASWVQFHLGINRHG
L YSRSSPVVSKLLQDMRHFPT
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 LQLRLEASWVQFHLGINRHGL YSRSSPVVSKLLQDMRHFPT
Mouse LQFRPEASWVQFHLGINSHGL YSRSSLAISKLLHDMRHFPT
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.
Literature citations
A secretory kinase complex regulates extracellular protein phosphorylation.
Cui J.; Xiao J.; Tagliabracci V.S.; Wen J.; Rahdar M.; Dixon J.E.;
Elife 4:0-0(2015)
Cited for: FUNCTION; INTERACTION WITH FAM20C; MUTAGENESIS OF GLN-258; CHARACTERIZATION OF VARIANTS AI1G ARG-173; ASP-331 AND ASN-403;
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G.; De la Dure-Molla M.; Parry D.; Quentric M.; Himmerkus N.; Koike T.; Poulter J.; Klootwijk E.; Robinette S.L.; Howie A.J.; Patel V.; Figueres M.L.; Stanescu H.C.; Issler N.; Nicholson J.K.; Bockenhauer D.; Laing C.; Walsh S.B.; McCredie D.A.; Povey S.; Asselin A.; Picard A.; Coulomb A.; Medlar A.J.; Bailleul-Forestier I.; Verloes A.; Le Caignec C.; Roussey G.; Guiol J.; Isidor B.; Logan C.; Shore R.; Johnson C.; Inglehearn C.; Al-Bahlani S.; Schmittbuhl M.; Clauss F.; Huckert M.; Laugel V.; Ginglinger E.; Pajarola S.; Sparta G.; Bartholdi D.; Rauch A.; Addor M.C.; Yamaguti P.M.; Safatle H.P.; Acevedo A.C.; Martelli-Junior H.; dos Santos Netos P.E.; Coletta R.D.; Gruessel S.; Sandmann C.; Ruehmann D.; Langman C.B.; Scheinman S.J.; Ozdemir-Ozenen D.; Hart T.C.; Hart P.S.; Neugebauer U.; Schlatter E.; Houillier P.; Gahl W.A.; Vikkula M.; Bloch-Zupan A.; Bleich M.; Kitagawa H.; Unwin R.J.; Mighell A.; Berdal A.; Kleta R.;
Nephron Physiol. 122:1-6(2012)
Cited for: VARIANT AI1G ARG-173;
Disclaimer:
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.