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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51798: Variant p.Arg286Gln

H(+)/Cl(-) exchange transporter 7
Gene: CLCN7
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Variant information Variant position: help 286
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 286 (R286Q, p.Arg286Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In OPTA2.
Other resources: help


Sequence information Variant position: help 286
Protein sequence length: help 805
Location on the sequence: help STSLKRDFKIFEYFRRDTEK R DFVSAGAAAGVSAAFGAPVG
Residue conservation: help 
Human                         STSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVG

Mouse                         STSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVG

Rat                           STSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVG

Bovine                        STSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 805 H(+)/Cl(-) exchange transporter 7
Helix 283 – 301



Literature citations
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; 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.