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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14CZ8: Variant p.Arg92Gln

Hepatic and glial cell adhesion molecule
Gene: HEPACAM
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Variant information Variant position: help 92
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 92 (R92Q, p.Arg92Gln).
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 MLC2A; retains the interaction with CLCN2; loss of CLCN2 targeting to cell junctions.
Other resources: help


Sequence information Variant position: help 92
Protein sequence length: help 416
Location on the sequence: help KRDKPVTVVQSIGTEVIGTL R PDYRDRIRLFENGSLLLSDL
Residue conservation: help
Human                         KRDKPVTVVQSIGTEVIGTLRPDYRDRIRLFENGSLLLSDL

Mouse                         KRDKPVTVVQSIGTEVIGTLRPDYRDRIRLFENGSLLLSDL

Bovine                        KRDKPVTVVQSIGTEVIGTLRPDYRDRIRLFENGSLLLSDL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 34 – 416 Hepatic and glial cell adhesion molecule
Topological domain 34 – 240 Extracellular
Domain 34 – 142 Ig-like V-type



Literature citations
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Jeworutzki E.; Lopez-Hernandez T.; Capdevila-Nortes X.; Sirisi S.; Bengtsson L.; Montolio M.; Zifarelli G.; Arnedo T.; Mueller C.S.; Schulte U.; Nunes V.; Martinez A.; Jentsch T.J.; Gasull X.; Pusch M.; Estevez R.;
Neuron 73:951-961(2012)
Cited for: FUNCTION; INTERACTION WITH CLCN2; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS MLC2A GLN-92 AND CYS-98; CHARACTERIZATION OF VARIANTS MLC2B ASP-89 AND TRP-92; Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
Lopez-Hernandez T.; Ridder M.C.; Montolio M.; Capdevila-Nortes X.; Polder E.; Sirisi S.; Duarri A.; Schulte U.; Fakler B.; Nunes V.; Scheper G.C.; Martinez A.; Estevez R.; van der Knaap M.S.;
Am. J. Hum. Genet. 88:422-432(2011)
Cited for: VARIANTS MLC2A HIS-23; GLN-92; CYS-98; SER-148; TYR-196 AND ASN-211; VARIANTS MLC2B ASP-89; SER-89; TRP-92; ASN-128; LYS-135 DEL AND CYS-288;
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.