Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24350 | 73273;73274;73275 | chr2:178573084;178573083;178573082 | chr2:179437811;179437810;179437809 |
| N2AB | 22709 | 68350;68351;68352 | chr2:178573084;178573083;178573082 | chr2:179437811;179437810;179437809 |
| N2A | 21782 | 65569;65570;65571 | chr2:178573084;178573083;178573082 | chr2:179437811;179437810;179437809 |
| N2B | 15285 | 46078;46079;46080 | chr2:178573084;178573083;178573082 | chr2:179437811;179437810;179437809 |
| Novex-1 | 15410 | 46453;46454;46455 | chr2:178573084;178573083;178573082 | chr2:179437811;179437810;179437809 |
| Novex-2 | 15477 | 46654;46655;46656 | chr2:178573084;178573083;178573082 | chr2:179437811;179437810;179437809 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs751015119  |
-0.873 | 0.999 | N | 0.651 | 0.461 | 0.465464902746 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/H | rs751015119 |
-0.873 | 0.999 | N | 0.651 | 0.461 | 0.465464902746 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/H | rs751015119 |
-0.873 | 0.999 | N | 0.651 | 0.461 | 0.465464902746 | gnomAD-4.0.0 | 4.9592E-06 | None | None | None | None | I | None | 0 | 1.668E-05 | None | 0 | 0 | None | 0 | 0 | 5.93446E-06 | 0 | 0 |
| D/N | None | None | 0.993 | N | 0.707 | 0.46 | 0.374613414588 | gnomAD-4.0.0 | 8.21309E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07957E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9026 | likely_pathogenic | 0.9231 | pathogenic | -0.846 | Destabilizing | 0.993 | D | 0.643 | neutral | N | 0.502439188 | None | None | I |
| D/C | 0.9803 | likely_pathogenic | 0.9802 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | I |
| D/E | 0.8966 | likely_pathogenic | 0.8911 | pathogenic | -0.647 | Destabilizing | 0.117 | N | 0.241 | neutral | N | 0.502741903 | None | None | I |
| D/F | 0.9882 | likely_pathogenic | 0.9914 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | I |
| D/G | 0.8799 | likely_pathogenic | 0.9037 | pathogenic | -1.162 | Destabilizing | 0.977 | D | 0.657 | neutral | N | 0.510049738 | None | None | I |
| D/H | 0.9321 | likely_pathogenic | 0.9468 | pathogenic | -0.869 | Destabilizing | 0.999 | D | 0.651 | neutral | N | 0.513403873 | None | None | I |
| D/I | 0.9813 | likely_pathogenic | 0.9836 | pathogenic | -0.016 | Destabilizing | 0.998 | D | 0.656 | neutral | None | None | None | None | I |
| D/K | 0.9791 | likely_pathogenic | 0.9843 | pathogenic | -0.347 | Destabilizing | 0.99 | D | 0.641 | neutral | None | None | None | None | I |
| D/L | 0.9723 | likely_pathogenic | 0.9772 | pathogenic | -0.016 | Destabilizing | 0.995 | D | 0.646 | neutral | None | None | None | None | I |
| D/M | 0.991 | likely_pathogenic | 0.9924 | pathogenic | 0.499 | Stabilizing | 1.0 | D | 0.616 | neutral | None | None | None | None | I |
| D/N | 0.3059 | likely_benign | 0.3193 | benign | -0.75 | Destabilizing | 0.993 | D | 0.707 | prob.neutral | N | 0.477182136 | None | None | I |
| D/P | 0.9842 | likely_pathogenic | 0.9899 | pathogenic | -0.27 | Destabilizing | 0.998 | D | 0.698 | prob.neutral | None | None | None | None | I |
| D/Q | 0.9648 | likely_pathogenic | 0.9706 | pathogenic | -0.656 | Destabilizing | 0.99 | D | 0.736 | prob.delet. | None | None | None | None | I |
| D/R | 0.9716 | likely_pathogenic | 0.9772 | pathogenic | -0.243 | Destabilizing | 0.995 | D | 0.669 | neutral | None | None | None | None | I |
| D/S | 0.6074 | likely_pathogenic | 0.6512 | pathogenic | -0.999 | Destabilizing | 0.983 | D | 0.67 | neutral | None | None | None | None | I |
| D/T | 0.8855 | likely_pathogenic | 0.9088 | pathogenic | -0.735 | Destabilizing | 0.995 | D | 0.7 | prob.neutral | None | None | None | None | I |
| D/V | 0.951 | likely_pathogenic | 0.9565 | pathogenic | -0.27 | Destabilizing | 0.997 | D | 0.655 | neutral | N | 0.515365656 | None | None | I |
| D/W | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| D/Y | 0.9109 | likely_pathogenic | 0.9289 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.625 | neutral | D | 0.546258248 | None | None | I |
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.