Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6882 | 20869;20870;20871 | chr2:178725560;178725559;178725558 | chr2:179590287;179590286;179590285 |
| N2AB | 6565 | 19918;19919;19920 | chr2:178725560;178725559;178725558 | chr2:179590287;179590286;179590285 |
| N2A | 5638 | 17137;17138;17139 | chr2:178725560;178725559;178725558 | chr2:179590287;179590286;179590285 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1299399084  |
-0.138 | 1.0 | D | 0.725 | 0.5 | 0.860948595624 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.45161E-04 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1299399084 |
-0.138 | 1.0 | D | 0.725 | 0.5 | 0.860948595624 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1299399084 |
-0.138 | 1.0 | D | 0.725 | 0.5 | 0.860948595624 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4213 | ambiguous | 0.4336 | ambiguous | -0.805 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.49654211 | None | None | I |
| P/C | 0.9343 | likely_pathogenic | 0.9415 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| P/D | 0.7574 | likely_pathogenic | 0.7373 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| P/E | 0.6997 | likely_pathogenic | 0.6737 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| P/F | 0.9401 | likely_pathogenic | 0.9421 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| P/G | 0.7237 | likely_pathogenic | 0.6945 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| P/H | 0.6797 | likely_pathogenic | 0.6886 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.523004157 | None | None | I |
| P/I | 0.8733 | likely_pathogenic | 0.8656 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| P/K | 0.7735 | likely_pathogenic | 0.7798 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| P/L | 0.5923 | likely_pathogenic | 0.6142 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.522243688 | None | None | I |
| P/M | 0.847 | likely_pathogenic | 0.8392 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| P/N | 0.6873 | likely_pathogenic | 0.6433 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| P/Q | 0.6272 | likely_pathogenic | 0.6277 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| P/R | 0.6656 | likely_pathogenic | 0.695 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.522243688 | None | None | I |
| P/S | 0.5446 | ambiguous | 0.5289 | ambiguous | -0.816 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.506506063 | None | None | I |
| P/T | 0.4935 | ambiguous | 0.4774 | ambiguous | -0.785 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.48738785 | None | None | I |
| P/V | 0.7429 | likely_pathogenic | 0.7414 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| P/W | 0.9634 | likely_pathogenic | 0.9673 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| P/Y | 0.8875 | likely_pathogenic | 0.8903 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | 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.