Sequence information
Variant position: 544 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1151 The length of the canonical sequence.
Location on the sequence:
VHRRLRHGSSSYPPVIYSPL
M PKGATCFECNITFNNLDNYL
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 VHRRLRHGSSSYPPVIYSPLM PKGATCFECNITFNNLDNYL
Mouse VHRRLRHGSSSYPPVIYSPLM PKGATCFECNITFNNLDNYL
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
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
Bashamboo A.; Brauner R.; Bignon-Topalovic J.; Lortat-Jacob S.; Karageorgou V.; Lourenco D.; Guffanti A.; McElreavey K.;
Hum. Mol. Genet. 23:3657-3665(2014)
Cited for: INTERACTION WITH GATA4; INVOLVEMENT IN SRXY9; VARIANTS SRXY9 GLN-260; ARG-402 AND ILE-544; VARIANTS GLY-403 AND ASP-782; CHARACTERIZATION OF VARIANTS GLN-260 AND ARG-402;
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
De Luca A.; Sarkozy A.; Ferese R.; Consoli F.; Lepri F.; Dentici M.L.; Vergara P.; De Zorzi A.; Versacci P.; Digilio M.C.; Marino B.; Dallapiccola B.;
Clin. Genet. 80:184-190(2011)
Cited for: VARIANT TOF ILE-544; VARIANTS CTHM GLY-30 AND VAL-227;
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.