rs142045517 |
2 |
103 |
Ala34 |
G/A |
Ala/Thr |
Ala34 is Ser in rodent Cα and Thr in human Cβ – likely few functional consequences |
rs56029020 |
3 |
121 |
Leu40 |
T/G |
Leu/Val |
Leu40 is absolutely conserved in metazoan Cα/Cβ homologs – likely deleterious |
rs112360106 |
3 |
149 |
Leu49 |
T/A |
Leu/His |
Conserved in metazoan Cα/Cβ homologs – likely deleterious |
rs148280386 |
5 |
409 |
Gly136 |
G/A |
Gly/Arg |
Conserved in metazoan Cα/Cβ homologs – likely deleterious |
rs142007512 |
6 |
541 |
Ile180 |
A/G |
Ile/Val |
Highly conserved in vertebrate Cα/Cβ – possibly functional effects |
rs11541563 |
7 |
560 |
Gly186 |
G/T |
Gly/Val |
Conserved in metazoan Cα/Cβ homologs – likely deleterious |
rs34988264 |
8 |
673 |
Leu224 |
-/G, 1 nt insertion |
|
Frame shift in exon 8 – very likely results in nonfunctional Cα |
rs35635531 |
9 |
791 |
Ser263 |
C/G |
Ser/Cys |
Highly conserved in metazoan Cα/Cβ homologs – possibly functional effects |
rs146946205 |
9 |
842 |
Arg280 |
G/A |
Arg/His |
Conserved in metazoan Cα/Cβ homologs – likely deleterious |
rs187770246 |
9 |
926 |
Arg308 |
G/A |
Arg/Lys |
Conserved as Arg or Lys in metazoa – likely few consequences |
rs149832080 |
10 |
955 |
Phe318 |
T/C |
Phe/Leu |
Not conserved in vertebrates – likely few consequences |
rs141087932 |
10 |
1045 |
Ser348 |
T/C |
Ser/Pro |
Not conserved in mammals – likely few consequences |