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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51168: Variant p.Asn288Ser

Epithelial sodium channel subunit beta
Gene: SCNN1B
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Variant information Variant position: help 288
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Serine (S) at position 288 (N288S, p.Asn288Ser).
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S)
BLOSUM score: help 1
Variant description: help In BESC1.
Other resources: help


Sequence information Variant position: help 288
Protein sequence length: help 640
Location on the sequence: help HYGNCYIFNWGMTEKALPSA N PGTEFGLKLILDIGQEDYVP
Residue conservation: help 
Human                         HYGNCYIFNWGMT-EKALPSANPGTEFGLKLILDIGQEDYVP

                              DYGNCYIFNWGMT-EKALPSANPGAEFGLKLILDIGQEDYV

Chimpanzee                    HYGNCYIFNWGMT-EKALPSANPGTEFGLKLILDIGQEDYV

Mouse                         DYGNCYIFNWGMT-EETLPSANPGTEFGLKLILDIGQEDYV

Rat                           DYGNCYIFNWGMT-EKALPSANPGTEFGLKLILDIGQEDYV

Bovine                        DYGNCYIFNWGMT-EKALPSANPGTEFGLKLILDMGQEDYV

Rabbit                        DYGNCYVFNWGMT-EKALPSANPGTEFGLKLILDIGQEDYV

Sheep                         DYGNCYIFNWGMT-EKALPSANPGTEFGLKLILDMGQEDYV

Xenopus laevis                DYGNCYIFNWGQEGENTMSSANPGADFGLKLVLDIEQGEYL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 640 Epithelial sodium channel subunit beta
Topological domain 72 – 532 Extracellular



Literature citations
Could a defective epithelial sodium channel lead to bronchiectasis.
Fajac I.; Viel M.; Sublemontier S.; Hubert D.; Bienvenu T.;
Respir. Res. 9:46-46(2008)
Cited for: VARIANTS BESC1 CYS-82; SER-288 AND THR-369;
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.