The Missing Heritability in T1D and Potential New Targets for Prevention

Table 2

Previously identified polymorphisms in TRAV/TRBV genes near the pMHC interface.

TCR Location^1	Polymorphism(s)^2	Genes^2
N-term	N2D	TRAV9-2
CDR1α	V27M, G29V, G29R, N30S, P30E, P30Q, N31D, Y32S	TRAV36, TRAV12-2, TRAV8-4, TRAV14-1, TRAV38-1, TRAV20
CDR2α	F55S, Q56E, A57G, V57M, S58T, T58I, A59G, K59E, Q61E	TRAV12-2, TRAV1-1, TRAV8-4, TRAV14-1, TRAV25, TRAV8-7, TRAV26-2, TRAV38-1
CDR1β	A30V, N30E	TRBV7-7, TRBV6-6
CDR2β	Q55H, Q57H, V57I, D58N, G60D, S60C, Q60H, L61I	TRBV9, TRBV19, TRBV30, TRBV15, TRBV20-1, TRBV10-1, TRBV3-1
HV4β	G84E	TRBV7-2

1Region of the TCR variable domain tertiary structure. CDRs are as defined by Lefranc et al. [54], with CDR2 extended by one residue at the N-terminus to account for pMHC contacts with this position. ²From IMGT [55], as well as additional data from Mackelprang et al. [56] (in bold italics). IMGT TCR residue numbering used.