Figure 2 of Devi, Mol Vis 2006; 12:190-195.


Figure 2. Analysis of family 2

A: The genomic sequence of the wild type pedigree showing an arginine at codon 198. B: The mutant allele showing a heterozygous T>A transition that substitutes Glu for Arg. C: Pedigree of family 2. D: PCR-RFLP analysis showing the loss of an MspI site in the mutant allele that results in 243 bp, 144 bp, 27 bp, 21 bp, and 16 bp bands while the normal allele shows 243 bp, 105 bp, 39 bp, 27 bp, 21 bp, and 16 bp bands. The latter 39 bp, 27 bp, 21 bp, and 16 bp bands are not visible on the gel. In the image, M indicates the 100 bp DNA ladder, C indicates control, and UD indicates undigested PCR product. E: A multiple sequence alignment of Cx50 with other connexin proteins. The amino acid marked in red indicates the position of R198, where ariginine is highly conserved among connexins.

(32 K)

 

D:

(35 K)

 

E:

CXA8_HUMAN    193   DCFVSRPTEKTIFILFMLSVASVSLFLNVMELGHLGLKGIR   233
CXA8_MOUSE    193   DCFVSRPTEKTIFILFMLSVAFVSLFLNIMEMSHLGMKGIR   233
CXA8_SHEEP    193   DCFVSRPTEKTIFILFMLSVASVSLFLNILEMSHLGLKKIR   233
CXA8_CHICK    193   DCFVSRPTEKTIFIMFMLVVAAVSLFLNLVEISHLILKRIR   233
CXA1_HUMAN    193   DCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVK   233
CXA3_HUMAN    193   DCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLK   233
CXA4_HUMAN    193   DCFVSRPTEKTIFIIFMLVVGLISLVLNLLELVHLLCRCLS   233
CXA5_HUMAN    193   DCYVSRPTEKNVFIVFMLAVAALSLLLSLAELYHLGWKKIR   233
CXA10_HUMAN   193   DCFVSRPTEKTIFLLFMQSIATISLFLNILEIFHLGFKKIF   233

Devi, Mol Vis 2006; 12:190-195 <http://www.molvis.org/molvis/v12/a21/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535