TABLE 1.
Encoded protein variant | Protein/DNA variant name | Position on chr 6 (bp) a | 86,008,407 | 86,008,401 | 86,008,103 | 86,008,049 | 86,008,047 | 86,008,016 | 86,007,341/86,007,342 | 86,006,394 | References |
---|---|---|---|---|---|---|---|---|---|---|---|
Position on the gene | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 7 | Exon 8 | Exon 9 (3′ UTR) | |||
Amino acid position b | 47 | 58 | 148 | 166 | 167 | 177 | 207 | ||||
CSN2*C | CSN2*C | NC_030813 | C | T | G | G | G | A | AC | G | Wang et al. (2001); Neveu et al. (2002); Bickhart et al. (2017) |
XP_005681778 | Asp | Leu | Pro | Ser | Q | Val | Val | ||||
CSN2*A | CSN2*A | CSN2*A_Gen. | G | Roberts et al. (1992), Rando (1998) | |||||||
CSN2*A_Prot. | Ala | ||||||||||
CSN2*A | CSN2*A1 | CSN2*A1_Gen. | A | Cosenza et al. (2005) | |||||||
CSN2*A1_Prot. | |||||||||||
CSN2*B | CSN2*B* | CSN2*B_Gen. | NCD; Mahé and Grosclaude (1993) | ||||||||
CSN2*B_Prot. | |||||||||||
CSN2*C | CSN2*C1 | CSN2*C1_Gen. | A | Chessa et al. (2008) | |||||||
CSN2*C1_Prot. | |||||||||||
CSN2*C | CSN2*C2** | CSN2*C2_Gen. | A | Nicolai et al. (2021) | |||||||
CSN2*C2_Prot. | |||||||||||
CSN2*D | CSN2*D | CSN2*D_Gen. | TT | NCD; Galliano et al. (2004) | |||||||
CSN2*D_Prot. | Asn | ||||||||||
CSN2*E | CSN2*E | CSN2*E_Gen. | T | Caroli et al. (2006) | |||||||
CSN2*E_Prot. | Tyr | ||||||||||
CSN2*F | CSN2*F (CSN2*E) | CSN2*F_Gen. | A | NCD; Chianese et al. (2007); Moatsou et al. (2007) | |||||||
CSN2*F_Prot. | Thr | ||||||||||
CSN2*F | CSN2*F1 | CSN2*F1_Gen. | A | A | Nicolai et al. (2021) | ||||||
CSN2*F1_Prot. | Thr | ||||||||||
CSN2*G | CSN2*G (CSN2*F) | CSN2*G_Gen. | A | Rahmatalla et al. (2021) | |||||||
CSN2*G_Prot. | Leu | ||||||||||
CSN2*0 | CSN2*0 | CSN2*0_Gen. | Del_T | Persuy et al. (1999) | |||||||
CSN2*0_Prot. | Stop codon | NT | NT | NT | NT | NT | |||||
CSN2*0 | CSN2*0' | CSN2*0'_Gen. | A | Rando et al. (1996), Boulanger et al. (1984) | |||||||
CSN2*0'_Prot. | Stop codonc | NT | NT |
Chromosomal position in base pairs (bp) in the positive strand according to the goat genome reference version LWLT01, which represent CSN2*C.
Amino acids position according to the reference protein sequence XP_005681778. The whole sequence of 257 amino acids comprises 207 of the mature protein. All the amino acid position based on the mature protein.
*: Variant CSN2*B migrates faster under alkaline pH and slower in acid pH and there is difference in mobility compared to variant CSN2*A
**: CSN2*C2 coding for the same amino acid sequence as variant CSN2*C1, but it was lower the amount of the expressed protein.
The nucleotide mutation generates a stop codon.
Mutations in the 3'UTR are shown in italics and bold and non-synonymous mutations are shown in normal font.
Del= deletion, NCD = Not characterized at the DNA level.
NT: Not translated after stop codon.
The name of the old variant are given in parentheses.