Sequence information
Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 616 The length of the canonical sequence.
Location on the sequence:
PRRCACTAGYHWSQDCECCR
R NTECAPGLGAQHPLQLNKDT
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 PRRCACTAGYHWSQDCECCRR NTECAPGLGAQHPLQLNKDT
Mouse PRRCACTAGYHWNSDCECCRR NTECAPGFGAQHPLQLNKDT
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
Chain
30 – 616
Tumor necrosis factor receptor superfamily member 11A
Topological domain
30 – 212
Extracellular
Repeat
114 – 151
TNFR-Cys 3
Metal binding
133 – 133
Sodium; via carbonyl oxygen
Metal binding
134 – 134
Sodium; via carbonyl oxygen
Literature citations
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
Guerrini M.M.; Sobacchi C.; Cassani B.; Abinun M.; Kilic S.S.; Pangrazio A.; Moratto D.; Mazzolari E.; Clayton-Smith J.; Orchard P.; Coxon F.P.; Helfrich M.H.; Crockett J.C.; Mellis D.; Vellodi A.; Tezcan I.; Notarangelo L.D.; Rogers M.J.; Vezzoni P.; Villa A.; Frattini A.;
Am. J. Hum. Genet. 83:64-76(2008)
Cited for: VARIANTS OPTB7 ARG-53; CYS-129; GLY-170; ARG-175 AND SER-244;
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.