Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21985 | 66178;66179;66180 | chr2:178582503;178582502;178582501 | chr2:179447230;179447229;179447228 |
| N2AB | 20344 | 61255;61256;61257 | chr2:178582503;178582502;178582501 | chr2:179447230;179447229;179447228 |
| N2A | 19417 | 58474;58475;58476 | chr2:178582503;178582502;178582501 | chr2:179447230;179447229;179447228 |
| N2B | 12920 | 38983;38984;38985 | chr2:178582503;178582502;178582501 | chr2:179447230;179447229;179447228 |
| Novex-1 | 13045 | 39358;39359;39360 | chr2:178582503;178582502;178582501 | chr2:179447230;179447229;179447228 |
| Novex-2 | 13112 | 39559;39560;39561 | chr2:178582503;178582502;178582501 | chr2:179447230;179447229;179447228 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | None | None | 1.0 | N | 0.693 | 0.516 | 0.375326005269 | gnomAD-4.0.0 | 1.59311E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86151E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.789 | 0.61 | 0.8688346219 | gnomAD-4.0.0 | 1.20039E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31258E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8435 | likely_pathogenic | 0.7965 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.519922602 | None | None | I |
| G/C | 0.8254 | likely_pathogenic | 0.7257 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.536420696 | None | None | I |
| G/D | 0.9551 | likely_pathogenic | 0.9363 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.528823372 | None | None | I |
| G/E | 0.9728 | likely_pathogenic | 0.9627 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/F | 0.9794 | likely_pathogenic | 0.9733 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/H | 0.9819 | likely_pathogenic | 0.9708 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/I | 0.9799 | likely_pathogenic | 0.9719 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9883 | likely_pathogenic | 0.9824 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/L | 0.9741 | likely_pathogenic | 0.9628 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/M | 0.9809 | likely_pathogenic | 0.9718 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.9209 | likely_pathogenic | 0.8948 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Q | 0.9687 | likely_pathogenic | 0.9536 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.9689 | likely_pathogenic | 0.9561 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.522582402 | None | None | I |
| G/S | 0.7362 | likely_pathogenic | 0.6619 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.515643415 | None | None | I |
| G/T | 0.9561 | likely_pathogenic | 0.939 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/V | 0.9665 | likely_pathogenic | 0.953 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.559297891 | None | None | I |
| G/W | 0.9808 | likely_pathogenic | 0.9749 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Y | 0.9729 | likely_pathogenic | 0.9652 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | 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.