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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51795: Variant p.Ser340Arg

H(+)/Cl(-) exchange transporter 5
Gene: CLCN5
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Variant information Variant position: help 340
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Arginine (R) at position 340 (S340R, p.Ser340Arg).
Physico-chemical properties: help Change from small size and polar (S) to large size and basic (R)
BLOSUM score: help -1
Variant description: help In DENT1; retained in the endoplasmic reticulum; alters protein stability; associated with an abolition of chloride current.


Sequence information Variant position: help 340
Protein sequence length: help 816
Location on the sequence: help GVSVAFGAPIGGVLFSLEEV S YYFPLKTLWRSFFAALVAAF
Residue conservation: help 
Human                         GVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF

Mouse                         GVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF

Rat                           GVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF

Pig                           GVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF

Rabbit                        GVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 816 H(+)/Cl(-) exchange transporter 5
Site 338 – 338 Mediates proton transfer from the protein to the inner aqueous phase



Literature citations
Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
Igarashi T.; Gunther W.; Sekine T.; Inatomi J.; Shiraga H.; Takahashi S.; Suzuki J.; Tsuru N.; Yanagihara T.; Shimazu M.; Jentsch T.J.; Thakker R.V.;
Kidney Int. 54:1850-1856(1998)
Cited for: VARIANTS DENT1 ARG-340 AND PHE-348; CHARACTERIZATION OF VARIANTS DENT1 ARG-340 AND PHE-348; Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
Smith A.J.; Reed A.A.; Loh N.Y.; Thakker R.V.; Lippiat J.D.;
Am. J. Physiol. 296:F390-F397(2009)
Cited for: CHARACTERIZATION OF VARIANTS DENT1 VAL-127; ARG-340; GLU-583; TRP-586 AND ASP-597; CHARACTERIZATION OF VARIANTS LMWPHN PRO-350 AND LYS-594; SUBCELLULAR LOCATION;
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.