Sequence information
Variant position: 731 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 760 The length of the canonical sequence.
Location on the sequence:
ETVVDIFRKLGLRQCLVTRS
G RLLGIITKKDVLRHMAQMAN
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 ETVVDIFRKLGLRQCLVTRSG RLLGIITKKDVLRHMAQMAN
Mouse ETVVDIFRKLGLRQCLVTRSG RLLGIITKKDVLRHMAQMAN
Rat ETVVDIFRKLGLRQCLVTRSG RLLGIITKKDVLRHMAQMAN
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 – 760
H(+)/Cl(-) exchange transporter 4
Topological domain
567 – 760
Cytoplasmic
Domain
697 – 755
CBS 2
Literature citations
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer E.E.; Stuhlmann T.; Weinert S.; Haan E.; Van Esch H.; Holvoet M.; Boyle J.; Leffler M.; Raynaud M.; Moraine C.; van Bokhoven H.; Kleefstra T.; Kahrizi K.; Najmabadi H.; Ropers H.H.; Delgado M.R.; Sirsi D.; Golla S.; Sommer A.; Pietryga M.P.; Chung W.K.; Wynn J.; Rohena L.; Bernardo E.; Hamlin D.; Faux B.M.; Grange D.K.; Manwaring L.; Tolmie J.; Joss S.; Cobben J.M.; Duijkers F.A.M.; Goehringer J.M.; Challman T.D.; Hennig F.; Fischer U.; Grimme A.; Suckow V.; Musante L.; Nicholl J.; Shaw M.; Lodh S.P.; Niu Z.; Rosenfeld J.A.; Stankiewicz P.; Jentsch T.J.; Gecz J.; Field M.; Kalscheuer V.M.;
Mol. Psychiatry 23:222-230(2018)
Cited for: VARIANTS MRXSRC ASN-15; SER-78; GLY-212; PRO-221; VAL-221; MET-275; LEU-534; MET-536; ARG-544; VAL-555; TRP-718 AND ARG-731; CHARACTERIZATION OF VARIANTS MRXSRC ASN-15; GLY-212; PRO-221; MET-275; LEU-534; VAL-555 AND TRP-718; FUNCTION; SUBCELLULAR LOCATION;
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H.; Haas S.A.; Chelly J.; Van Esch H.; Raynaud M.; de Brouwer A.P.; Weinert S.; Froyen G.; Frints S.G.; Laumonnier F.; Zemojtel T.; Love M.I.; Richard H.; Emde A.K.; Bienek M.; Jensen C.; Hambrock M.; Fischer U.; Langnick C.; Feldkamp M.; Wissink-Lindhout W.; Lebrun N.; Castelnau L.; Rucci J.; Montjean R.; Dorseuil O.; Billuart P.; Stuhlmann T.; Shaw M.; Corbett M.A.; Gardner A.; Willis-Owen S.; Tan C.; Friend K.L.; Belet S.; van Roozendaal K.E.; Jimenez-Pocquet M.; Moizard M.P.; Ronce N.; Sun R.; O'Keeffe S.; Chenna R.; van Boemmel A.; Goeke J.; Hackett A.; Field M.; Christie L.; Boyle J.; Haan E.; Nelson J.; Turner G.; Baynam G.; Gillessen-Kaesbach G.; Mueller U.; Steinberger D.; Budny B.; Badura-Stronka M.; Latos-Bielenska A.; Ousager L.B.; Wieacker P.; Rodriguez Criado G.; Bondeson M.L.; Anneren G.; Dufke A.; Cohen M.; Van Maldergem L.; Vincent-Delorme C.; Echenne B.; Simon-Bouy B.; Kleefstra T.; Willemsen M.; Fryns J.P.; Devriendt K.; Ullmann R.; Vingron M.; Wrogemann K.; Wienker T.F.; Tzschach A.; van Bokhoven H.; Gecz J.; Jentsch T.J.; Chen W.; Ropers H.H.; Kalscheuer V.M.;
Mol. Psychiatry 21:133-148(2016)
Cited for: FUNCTION; INVOLVEMENT IN MRXSRC; VARIANTS MRXSRC SER-78; VAL-221; MET-536 AND ARG-731; CHARACTERIZATION OF VARIANTS MRXSRC SER-78; VAL-221; MET-536 AND ARG-731;
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.