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UniProtKB/Swiss-Prot Q9HC84: Variant p.Ala4867Thr

Mucin-5B
Gene: MUC5B
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Variant information Variant position: help 4867
Type of variant: help LB/B
Residue change: help From Alanine (A) to Threonine (T) at position 4867 (A4867T, p.Ala4867Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 4867
Protein sequence length: help 5762
Location on the sequence: help ILTEPSTIATVMVPTGSTAT A SSTLGTAHTPKVVTTMATMP
Residue conservation: help 
Human                         ILTEPSTIATVMVPTGSTATASSTLGTAHTPKVVTTMATMP

Chicken                       -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 5762 Mucin-5B
Region 4233 – 4879 23 X approximate tandem repeats, Ser/Thr-rich



Literature citations
Human mucin gene MUC5B, the 10.7 kb large central exon encodes various alternate subdomains resulting in a super-repeat. Structural evidence for a 11p15.5 gene family.
Desseyn J.-L.; Guyonnet-Duperat V.; Porchet N.; Aubert J.-P.; Laine A.;
J. Biol. Chem. 272:3168-3178(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1325-4954; NUCLEOTIDE SEQUENCE [MRNA] OF 4170-4791; VARIANTS SER-1805; LEU-1889; THR-2025; THR-2194; PRO-2238; THR-2425; SER-3072; ALA-3284; PRO-3468; MET-3816; GLY-4404; LEU-4440; PRO-4706; MET-4712; THR-4867 AND ALA-4882;
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.