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. 2001 Jun 29;69(2):381–395. doi: 10.1086/321297

Table 3.

BV Segment–Inactivating Substitutions

Frequency of Inactivating Allele in
BV Segmenta dbSNPSS No. SubstitutionType Outcome AfricanAmericans Chinese Mexicans NorthernEuropeans All
BV06S1 (BV7-3) 458428 SNP Mutation of invariant Cysb .3 .05 .06 .15 .14
BV08S5 (BV12-2)c 19641 SNP Stopd .8 .7 .65 .28 .62
BV09S1 (BV3-1) 19643 SNP Splice-site disruptione .05 … … … .01
BV12S2 (BV10-1) 19660 SNP Stopd .3 .25 .2 .7 .36
BV13S7 (BV6-8)f 458517 SNP Stopd .4 … … … .1
BV20S1 (BV30) 19678 SNP Stopd,g … .05 .25 .3 .15
BV21S1 (BV11-1) 458534 SNP Stopd .05 … … … .01
BV25S1 (BV16) 19695 SNP Stopd,h .61 … .06 … .16
BV07S2-13S2  (BV4-3, BV6-2) … 21.5-kb deletion Deletion of genesi .7 .55 .8 .5 .64
a

Nomenclature follows Arden et al. (1995). Nomenclature in parentheses follows Rowen et al. (1996).

b

Previously identified (Luyrink et al. 1993).

c

Previously identified as pseudogene (Rowen et al. 1996).

d

All stop codons truncate V segments before CDR3 and thus preclude productive genomic rearrangement.

e

AG changed to TG in splice acceptor.

f

Potential pseudogene (Rowen et al. 1996).

g

Previously identified (Charmley et al. 1993).

h

Previously identified (Rowen et al. 1996).

i

Previously identified (Seboun et al. 1989).