Variant position: 221 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:
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 KWTLLIKTVTLVLVVSSGLS LGKEGPLVHVACCCGNFFSSL
Mouse KWTLLIKTVTLVLVVSSGLS LGKEGPLVHVACCCGNFFSSL
Rat KWTLLIKTVTLVLVVSSGLS LGKEGPLVHVACCCGNFFSSL
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
1 – 760 H(+)/Cl(-) exchange transporter 4
224 – 224 Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transport
224 – 224 E -> A. Restores chloride translocation, but not proton transport; when associated with A-281.
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;
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.