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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11686: Variant p.Ala116Asp

Surfactant protein C
Gene: SFTPC
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Variant information Variant position: help 116
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Aspartate (D) at position 116 (A116D, p.Ala116Asp).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and acidic (D)
BLOSUM score: help -2
Variant description: help In SMDP2.
Other resources: help


Sequence information Variant position: help 116
Protein sequence length: help 197
Location on the sequence: help IGSTGLVVYDYQQLLIAYKP A PGTCCYIMKIAPESIPSLEA
Residue conservation: help 
Human                         IGSTGLVVYDYQQLLIAYKPAPGTCCYIMKIAPESIPSLEA

                              -----------------------------------------

Rhesus macaque                FGSTGLVVYDYQRLLIAYKPAPGTWCYIMKTAPESIPSLEA

Mouse                         IGSTGIVVYDYQRLLTAYKPAPGTYCYIMKMAPESIPSLEA

Rat                           IGSTGIVLYDYQRLLTAYKPAPGTYCYIMKMAPESIPSLEA

Pig                           -----------------------------------------

Bovine                        IGSTGTVVYDYQRLLIAYKPAPGTCCYIMKMAPQNIPSLEA

Rabbit                        IGSTGIVTCDYQRLLIAYKPAPGTCCYLMKMAPDSIPSLEA
Sequence annotation in neighborhood: help
TypePositionsDescription
Propeptide 59 – 197
Domain 94 – 197 BRICHOS
Beta strand 110 – 116



Literature citations
Hydroxychloroquine and surfactant protein C deficiency.
Rosen D.M.; Waltz D.A.;
N. Engl. J. Med. 352:207-208(2005)
Cited for: VARIANT SMDP2 ASP-116;
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.