Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16974 | 51145;51146;51147 | chr2:178611209;178611208;178611207 | chr2:179475936;179475935;179475934 |
| N2AB | 15333 | 46222;46223;46224 | chr2:178611209;178611208;178611207 | chr2:179475936;179475935;179475934 |
| N2A | 14406 | 43441;43442;43443 | chr2:178611209;178611208;178611207 | chr2:179475936;179475935;179475934 |
| N2B | 7909 | 23950;23951;23952 | chr2:178611209;178611208;178611207 | chr2:179475936;179475935;179475934 |
| Novex-1 | 8034 | 24325;24326;24327 | chr2:178611209;178611208;178611207 | chr2:179475936;179475935;179475934 |
| Novex-2 | 8101 | 24526;24527;24528 | chr2:178611209;178611208;178611207 | chr2:179475936;179475935;179475934 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs768142416  |
-0.621 | 0.031 | N | 0.241 | 0.123 | 0.289474373501 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| I/L | rs768142416 |
-0.621 | 0.031 | N | 0.241 | 0.123 | 0.289474373501 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| I/L | rs768142416 |
-0.621 | 0.031 | N | 0.241 | 0.123 | 0.289474373501 | gnomAD-4.0.0 | 3.10063E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.49233E-05 | 0 |
| I/V | rs768142416 |
-1.149 | 0.689 | N | 0.377 | 0.153 | 0.57026793815 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 1.99203E-04 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| I/V | rs768142416 |
-1.149 | 0.689 | N | 0.377 | 0.153 | 0.57026793815 | gnomAD-4.0.0 | 6.16198E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.29797E-04 | 0 | None | 0 | 0 | 1.79967E-06 | 0 | 1.65854E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9252 | likely_pathogenic | 0.9206 | pathogenic | -2.07 | Highly Destabilizing | 0.985 | D | 0.698 | prob.neutral | None | None | None | None | N |
| I/C | 0.9335 | likely_pathogenic | 0.9263 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| I/D | 0.9962 | likely_pathogenic | 0.996 | pathogenic | -2.446 | Highly Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| I/E | 0.9924 | likely_pathogenic | 0.992 | pathogenic | -2.195 | Highly Destabilizing | 0.999 | D | 0.882 | deleterious | None | None | None | None | N |
| I/F | 0.317 | likely_benign | 0.3049 | benign | -1.354 | Destabilizing | 0.989 | D | 0.719 | prob.delet. | N | 0.477632484 | None | None | N |
| I/G | 0.989 | likely_pathogenic | 0.9888 | pathogenic | -2.547 | Highly Destabilizing | 0.999 | D | 0.884 | deleterious | None | None | None | None | N |
| I/H | 0.9732 | likely_pathogenic | 0.9713 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| I/K | 0.9792 | likely_pathogenic | 0.9775 | pathogenic | -1.677 | Destabilizing | 0.999 | D | 0.884 | deleterious | None | None | None | None | N |
| I/L | 0.1183 | likely_benign | 0.1137 | benign | -0.669 | Destabilizing | 0.031 | N | 0.241 | neutral | N | 0.406801874 | None | None | N |
| I/M | 0.2188 | likely_benign | 0.2168 | benign | -0.799 | Destabilizing | 0.989 | D | 0.683 | prob.neutral | N | 0.508628001 | None | None | N |
| I/N | 0.9516 | likely_pathogenic | 0.9495 | pathogenic | -2.198 | Highly Destabilizing | 0.998 | D | 0.875 | deleterious | D | 0.617864134 | None | None | N |
| I/P | 0.9946 | likely_pathogenic | 0.9948 | pathogenic | -1.123 | Destabilizing | 0.999 | D | 0.872 | deleterious | None | None | None | None | N |
| I/Q | 0.98 | likely_pathogenic | 0.9783 | pathogenic | -1.927 | Destabilizing | 0.999 | D | 0.888 | deleterious | None | None | None | None | N |
| I/R | 0.9697 | likely_pathogenic | 0.9658 | pathogenic | -1.727 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| I/S | 0.949 | likely_pathogenic | 0.9454 | pathogenic | -2.761 | Highly Destabilizing | 0.998 | D | 0.838 | deleterious | D | 0.657248389 | None | None | N |
| I/T | 0.9456 | likely_pathogenic | 0.945 | pathogenic | -2.354 | Highly Destabilizing | 0.98 | D | 0.773 | deleterious | D | 0.617739223 | None | None | N |
| I/V | 0.1342 | likely_benign | 0.1407 | benign | -1.123 | Destabilizing | 0.689 | D | 0.377 | neutral | N | 0.499963528 | None | None | N |
| I/W | 0.9705 | likely_pathogenic | 0.97 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| I/Y | 0.8839 | likely_pathogenic | 0.8827 | pathogenic | -1.332 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.