Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35247: Variant p.Ser290Thr

Pulmonary surfactant-associated protein D
Gene: SFTPD
Feedback?
Variant information Variant position: help 290
Type of variant: help LB/B
Residue change: help From Serine (S) to Threonine (T) at position 290 (S290T, p.Ser290Thr).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (T)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 290
Protein sequence length: help 375
Location on the sequence: help FVKPFTEAQLLCTQAGGQLA S PRSAAENAALQQLVVAKNEA
Residue conservation: help 
Human                         FVKPFTEAQLLCTQAGGQLASPRSAAENAALQQLVVAKNEA

Rhesus macaque                FVKPFTEAQLVCTQAGGQLASPRSAAENAALQQLVIAQNEA

Mouse                         SEKPFEDAQEMCKQAGGQLASPRSATENAAIQQLITAHNKA

Rat                           SEEPFEDAKEMCRQAGGQLASPRSATENAAVQQLVTAHSKA

Pig                           FEKTFQDAQQVCTQAGGQMASPRSETENEALSQLVTAQNKA

Bovine                        SEKTFQDAQQICTQAGGQLPSPRSAAENEALTQLATAQNKA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 375 Pulmonary surfactant-associated protein D
Domain 260 – 375 C-type lectin
Disulfide bond 281 – 373



Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-31; VAL-123; ALA-180; THR-290 AND LYS-309; Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.
Wang Y.; Kuan P.J.; Xing C.; Cronkhite J.T.; Torres F.; Rosenblatt R.L.; DiMaio J.M.; Kinch L.N.; Grishin N.V.; Garcia C.K.;
Am. J. Hum. Genet. 84:52-59(2009)
Cited for: VARIANTS THR-31; VAL-123; ALA-180 AND THR-290;
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.