Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 979 | 3160;3161;3162 | chr2:178782971;178782970;178782969 | chr2:179647698;179647697;179647696 |
| N2AB | 979 | 3160;3161;3162 | chr2:178782971;178782970;178782969 | chr2:179647698;179647697;179647696 |
| N2A | 979 | 3160;3161;3162 | chr2:178782971;178782970;178782969 | chr2:179647698;179647697;179647696 |
| N2B | 933 | 3022;3023;3024 | chr2:178782971;178782970;178782969 | chr2:179647698;179647697;179647696 |
| Novex-1 | 933 | 3022;3023;3024 | chr2:178782971;178782970;178782969 | chr2:179647698;179647697;179647696 |
| Novex-2 | 933 | 3022;3023;3024 | chr2:178782971;178782970;178782969 | chr2:179647698;179647697;179647696 |
| Novex-3 | 979 | 3160;3161;3162 | chr2:178782971;178782970;178782969 | chr2:179647698;179647697;179647696 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs778333259  |
-0.167 | 0.999 | N | 0.573 | 0.516 | 0.530803083455 | gnomAD-2.1.1 | 1.59E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30651E-04 | None | 0 | 0 | 0 |
| E/K | rs778333259 |
-0.167 | 0.999 | N | 0.573 | 0.516 | 0.530803083455 | gnomAD-4.0.0 | 2.0677E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.86252E-04 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8882 | likely_pathogenic | 0.8924 | pathogenic | -0.72 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.520483275 | None | None | N |
| E/C | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| E/D | 0.6321 | likely_pathogenic | 0.6242 | pathogenic | -0.635 | Destabilizing | 0.999 | D | 0.446 | neutral | N | 0.398618357 | None | None | N |
| E/F | 0.998 | likely_pathogenic | 0.998 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| E/G | 0.7178 | likely_pathogenic | 0.7183 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.476970875 | None | None | N |
| E/H | 0.9888 | likely_pathogenic | 0.9893 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.562 | neutral | None | None | None | None | N |
| E/I | 0.9939 | likely_pathogenic | 0.9941 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| E/K | 0.9052 | likely_pathogenic | 0.9094 | pathogenic | -0.06 | Destabilizing | 0.999 | D | 0.573 | neutral | N | 0.503596673 | None | None | N |
| E/L | 0.9848 | likely_pathogenic | 0.9853 | pathogenic | 0.01 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| E/M | 0.9841 | likely_pathogenic | 0.9841 | pathogenic | 0.282 | Stabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| E/N | 0.917 | likely_pathogenic | 0.9095 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| E/P | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| E/Q | 0.8354 | likely_pathogenic | 0.8423 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.55 | neutral | N | 0.52140469 | None | None | N |
| E/R | 0.9474 | likely_pathogenic | 0.9525 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| E/S | 0.8996 | likely_pathogenic | 0.9021 | pathogenic | -0.719 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| E/T | 0.9721 | likely_pathogenic | 0.9743 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| E/V | 0.9773 | likely_pathogenic | 0.979 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.523406473 | None | None | N |
| E/W | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| E/Y | 0.9943 | likely_pathogenic | 0.9943 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.613 | neutral | 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.