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UniProtKB/Swiss-Prot Q9Y6Q6: Variant p.Arg129Cys

Tumor necrosis factor receptor superfamily member 11A
Gene: TNFRSF11A
Variant information

Variant position:  129
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Cysteine (C) at position 129 (R129C, p.Arg129Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In OPTB7; a patient with osteoclast-poor osteopetrosis.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



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                         PRRCACTAGYHWSQDCECCRRNTECAPGLGAQHPLQLNKDT

Mouse                         PRRCACTAGYHWNSDCECCRRNTECAPGFGAQHPLQLNKDT

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.

TypePositionsDescription
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.