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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51793: Variant p.Gly78Ser

H(+)/Cl(-) exchange transporter 4
Gene: CLCN4
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Variant information Variant position: help 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glycine (G) to Serine (S) at position 78 (G78S, p.Gly78Ser). 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: help Change from glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In MRXSRC; marked reduction in outwardly-rectifying currents. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 760 The length of the canonical sequence.
Location on the sequence: help WEFIKSLLDAWSGWVVMLLI G LLAGTLAGVIDLAVDWMTDL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         WEFIKSLLDAWSGWVVMLLIGLLAGTLAGVIDLAVDWMTDL

Mouse                         WEFIKSLLDAWSGWVVMLLIGLLAGTLAGVIDLAVDWMTDL

Rat                           WEFIKSLLDAWSGWVVMLLIGLLAGTLAGVIDLAVDWMTDL
Sequence annotation in neighborhood: help 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 1 – 760 H(+)/Cl(-) exchange transporter 4
Transmembrane 68 – 105 Helical
Alternative sequence 1 – 94 Missing. In isoform 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.