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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51168: Variant p.Pro618Arg

Epithelial sodium channel subunit beta
Gene: SCNN1B
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Variant information Variant position: help 618
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Arginine (R) at position 618 (P618R, p.Pro618Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In LIDLS1.
Other resources: help


Sequence information Variant position: help 618
Protein sequence length: help 640
Location on the sequence: help SPNTGPYPSEQALPIPGTPP P NYDSLRLQPLDVIESDSEGD
Residue conservation: help 
Human                         SPNTGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDSEGD

                              GPDPGTYPDEQTLPIPGTPPPNYDSLRLQPLDVIESDSEGD

Chimpanzee                    SPNTGPYPNEQALPIPGTPPPNYDSLRLQPLDVIESDSEGD

Mouse                         RPHGEVYPDQQTLPIPGTPPPNYDSLRLQPLDTMESDSEVE

Rat                           RPNAEVYPDQQTLPIPGTPPPNYDSLRLQPLDTMESDSEVE

Bovine                        GPDVEAYPHEQNPPIPGTPPPNYDSLRLQPLDVIESDSEGD

Rabbit                        SPDAEAYPDEQALPIPGTPPPNYDSLRLQPLDVVESDSEGD

Sheep                         GPDAGAYRREQNPPIPGTPPPNYDSLRLQPLDVIESDSEGD

Xenopus laevis                VP----------VDIPGTPPPNYDSLRVNTAEPVSSDEEN-
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 640 Epithelial sodium channel subunit beta
Topological domain 554 – 640 Cytoplasmic
Region 590 – 640 Disordered
Motif 616 – 620 PY motif; recruits WW domain-containing proteins and is thereby required for ubiquitination and inhibition of the channel by NEDD4 and NEDD4L
Modified residue 633 – 633 Phosphoserine
Modified residue 635 – 635 Phosphoserine
Mutagenesis 620 – 620 Y -> A. Loss of inhibition of the ENaC channel by NEDD4. Loss of ubiquitination by NEDD4L.



Literature citations
Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.
Furuhashi M.; Kitamura K.; Adachi M.; Miyoshi T.; Wakida N.; Ura N.; Shikano Y.; Shinshi Y.; Sakamoto K.; Hayashi M.; Satoh N.; Nishitani T.; Tomita K.; Shimamoto K.;
J. Clin. Endocrinol. Metab. 90:340-344(2005)
Cited for: VARIANT LIDLS1 ARG-618;
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.