Skip to main content

Table 1 Summary of LRP4 mutations described within this study.

From: Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)

Family LRP 4 exon Genomic DNA sequence change LRP4 protein sequence change Affected LRP4 protein domain Predicted consequences
      Polyphen SIFT
Holstein I/Crossbred 33 c.4863_4864delCGinsAT p. [Asn1621Lys; Gly1622Cys] LDL-type EGF-like probably damaging not tolerated
Holstein II 33 c.4940C>T p.Pro1647Lys LDL-type EGF-like possibly damaging not tolerated
Simmental 3 c.241G>A p.Gly81Ser LDL receptor class A 2 benign tolerated
Simmental 26 c.3595G>A p.Gly1199Ser LDL receptor class B 13 possibly damaging not tolerated
Crossbred 20 c.2719G>A p.Gly907Arg LDL receptor class B 8 probably damaging not tolerated
  1. The putative consequences of the polymorphisms on the modified proteins were analyzed using PolyPhen [13] and SIFT [14]. These programs are sequence homology-based tools that sort intolerant from tolerant amino acid substitutions and predict whether an amino acid substitution in a protein has a possible phenotypic effect. Since PolyPhen considers only human protein sequences, the bovine mutations were investigated in the context of the human LRP4 protein sequence (SwissProt Accession No. O75096).