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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Leu558Ser

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 558
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Serine (S) at position 558 (L558S, p.Leu558Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to small size and polar (S)
BLOSUM score: help -2
Variant description: help In CF.
Other resources: help


Sequence information Variant position: help 558
Protein sequence length: help 1480
Location on the sequence: help NIVLGEGGITLSGGQRARIS L ARAVYKDADLYLLDSPFGYL
Residue conservation: help 
Human                         NIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYL

Gorilla                       NIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYL

                              NIVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYL

Rhesus macaque                NIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYL

Chimpanzee                    NIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYL

Mouse                         NTVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYL

Rat                           NTVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYL

Pig                           NIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYL

Bovine                        NVVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYL

Rabbit                        NTVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYL

Sheep                         NIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYL

Horse                         NIVLGEGGIQLSGGQRARISLARAVYKDADLYLLDSPFGYL

Xenopus laevis                NTVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFSYL

Zebrafish                     KTPMAEGGLNLSGGQKARVALARAVYRDADLYLLDAPFTHL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1480 Cystic fibrosis transmembrane conductance regulator
Topological domain 359 – 858 Cytoplasmic
Domain 423 – 646 ABC transporter 1
Modified residue 549 – 549 Phosphoserine
Mutagenesis 539 – 539 I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
Helix 550 – 563



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.