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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23760: Variant p.Ser73Leu

Paired box protein Pax-3
Gene: PAX3
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Variant information Variant position: help 73
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Leucine (L) at position 73 (S73L, p.Ser73Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In WS1.
Other resources: help


Sequence information Variant position: help 73
Protein sequence length: help 479
Location on the sequence: help NHIRHKIVEMAHHGIRPCVI S RQLRVSHGCVSKILCRYQET
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 479 Paired box protein Pax-3
DNA binding 34 – 161 Paired
Region 37 – 93 PAI subdomain



Literature citations
Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg syndrome type I.
Sotirova V.N.; Rezaie T.M.; Khoshsorour M.M.; Sarfarazi M.;
Ophthalmic Genet. 21:25-28(2000)
Cited for: VARIANT WS1 LEU-73;
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.