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

Table 1 Summary of LRP4 mutations described within this study.

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

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).

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