Skip to main content
. 2022 Dec 7;13:995349. doi: 10.3389/fgene.2022.995349

TABLE 1.

Nucleotide and amino acid variants within the gene and mature protein of the CSN2.

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  
a

Chromosomal position in base pairs (bp) in the positive strand according to the goat genome reference version LWLT01, which represent CSN2*C.

b

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.

c

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.