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UniProtKB/Swiss-Prot Q9Y493: Variant p.Phe1969Leu

Zonadhesin
Gene: ZAN
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Variant information Variant position: help 1969
Type of variant: help LB/B
Residue change: help From Phenylalanine (F) to Leucine (L) at position 1969 (F1969L, p.Phe1969Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 1969
Protein sequence length: help 2812
Location on the sequence: help IPDACTLVLVKVCHPAMALP F FKISAKHEKEEGGTEAFRLH
Residue conservation: help 
Human                         IPDACTLVLVKVCHPAMALPFFKISAKHE-KEEGGTEAFRLH

Mouse                         IQDTCTYILVKVCHPNTNMPFFMISAKTDINTNGKNKTFGV

Pig                           VRGNCTYVLVKICHSTMDLPFFKISGENG-KREGQPPAFYL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 18 – 2812 Zonadhesin
Topological domain 18 – 2757 Extracellular
Domain 1929 – 2108 VWFD 3
Disulfide bond 1931 – 2069
Disulfide bond 1953 – 2107



Literature citations
Molecular population genetics of the gene encoding the human fertilization protein zonadhesin reveals rapid adaptive evolution.
Gasper J.; Swanson W.J.;
Am. J. Hum. Genet. 79:820-830(2006)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-430; LEU-1969; THR-2035 AND PRO-2111; Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.
Gloeckner G.; Scherer S.; Schattevoy R.; Boright A.P.; Weber J.; Tsui L.-C.; Rosenthal A.;
Genome Res. 8:1060-1073(1998)
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-430; LEU-1969; MET-1995; THR-2035 AND PRO-2111; Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.
Wilson M.D.; Riemer C.; Martindale D.W.; Schnupf P.; Boright A.P.; Cheung T.L.; Hardy D.M.; Schwartz S.; Scherer S.W.; Tsui L.-C.; Miller W.; Koop B.F.;
Nucleic Acids Res. 29:1352-1365(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1810-2812 (ISOFORM 1); VARIANTS LEU-1969; THR-2035 AND PRO-2111;
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.