Sequence information
Variant position: 767 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 805 The length of the canonical sequence.
Location on the sequence:
TVPQEASLPRVFKLFRALGL
R HLVVVDNRNQVVGLVTRKDL
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 TVPQEASLPRVFKLFRALGLR HLVVVDNRNQVVGLVTRKDL
Mouse TVPQEASLPRVFKLFRALGLR HLVVVDNHNQVVGLVTRKDL
Rat TVPQEASLPRVFKLFRALGLR HLVVVDNHNQVVGLVTRKDL
Bovine TVPQEASLPRVFKLFRALGLR HLVVVDNCNQVVGLVTRKDL
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
1 – 805
H(+)/Cl(-) exchange transporter 7
Topological domain
598 – 805
Cytoplasmic
Domain
741 – 799
CBS 2
Literature citations
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
Cleiren E.; Benichou O.; Van Hul E.; Gram J.; Bollerslav J.; Singer F.R.; Beaverson K.; Aledo A.; Whyte M.P.; Yoneyama T.; de Vernejoul M.-C.; Van Hul W.;
Hum. Mol. Genet. 10:2861-2867(2001)
Cited for: VARIANT OPTB4 PRO-766; VARIANT OPTA2 TRP-767;
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Frattini A.; Pangrazio A.; Susani L.; Sobacchi C.; Mirolo M.; Abinun M.; Andolina M.; Flanagan A.; Horwitz E.M.; Mihci E.; Notarangelo L.D.; Ramenghi U.; Teti A.; Van Hove J.; Vujic D.; Young T.; Albertini A.; Orchard P.J.; Vezzoni P.; Villa A.;
J. Bone Miner. Res. 18:1740-1747(2003)
Cited for: VARIANTS OPTB4 ARG-240; ARG-249; VAL-332; TRP-526; PRO-614; PHE-744; GLN-767 AND TRP-767; VARIANTS OPTA2 ARG-215; GLN-286; PHE-490 AND VAL-677; VARIANT MET-418;
Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).
Zhang Z.L.; He J.W.; Zhang H.; Hu W.W.; Fu W.Z.; Gu J.M.; Yu J.B.; Gao G.; Hu Y.Q.; Li M.; Liu Y.J.;
J. Bone Miner. Metab. 27:444-451(2009)
Cited for: VARIANT OPTA2 TRP-767;
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
Pangrazio A.; Pusch M.; Caldana E.; Frattini A.; Lanino E.; Tamhankar P.M.; Phadke S.; Lopez A.G.; Orchard P.; Mihci E.; Abinun M.; Wright M.; Vettenranta K.; Bariae I.; Melis D.; Tezcan I.; Baumann C.; Locatelli F.; Zecca M.; Horwitz E.; Mansour L.S.; Van Roij M.; Vezzoni P.; Villa A.; Sobacchi C.;
Hum. Mutat. 31:E1071-E1080(2010)
Cited for: VARIANTS OPTB4 PRO-132; SER-214; LEU-227 DEL; ARG-240; GLN-403; ARG-521; GLN-526; TRP-526; PRO-549; PRO-651; TRP-762 AND PRO-767; VARIANTS OPTA2 ARG-215; GLN-286; LEU-318; LEU-758; GLN-762 AND TRP-767;
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.