Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4962 | 15109;15110;15111 | chr2:178735562;178735561;178735560 | chr2:179600289;179600288;179600287 |
| N2AB | 4645 | 14158;14159;14160 | chr2:178735562;178735561;178735560 | chr2:179600289;179600288;179600287 |
| N2A | 3718 | 11377;11378;11379 | chr2:178735562;178735561;178735560 | chr2:179600289;179600288;179600287 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs957102154  |
-1.794 | 0.698 | D | 0.642 | 0.603 | 0.498001352042 | gnomAD-2.1.1 | 2.04E-05 | None | None | None | None | N | None | 0 | 1.18071E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| A/S | rs957102154 |
-1.794 | 0.698 | D | 0.642 | 0.603 | 0.498001352042 | gnomAD-4.0.0 | 5.49119E-06 | None | None | None | None | N | None | 0 | 1.13859E-04 | None | 0 | 0 | None | 0 | 0 | 1.80105E-06 | 0 | 1.66328E-05 |
| A/T | None | None | 0.032 | D | 0.379 | 0.612 | 0.467752868181 | gnomAD-4.0.0 | 6.86399E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87857E-05 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.014 | D | 0.343 | 0.439 | 0.458734620958 | gnomAD-4.0.0 | 2.05935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70163E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7509 | likely_pathogenic | 0.7705 | pathogenic | -1.977 | Destabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| A/D | 0.9808 | likely_pathogenic | 0.9853 | pathogenic | -2.008 | Highly Destabilizing | 0.942 | D | 0.847 | deleterious | D | 0.830070886 | None | None | N |
| A/E | 0.9674 | likely_pathogenic | 0.973 | pathogenic | -1.945 | Destabilizing | 0.956 | D | 0.811 | deleterious | None | None | None | None | N |
| A/F | 0.7906 | likely_pathogenic | 0.8101 | pathogenic | -1.221 | Destabilizing | 0.956 | D | 0.843 | deleterious | None | None | None | None | N |
| A/G | 0.341 | ambiguous | 0.39 | ambiguous | -1.504 | Destabilizing | 0.822 | D | 0.65 | neutral | D | 0.712230398 | None | None | N |
| A/H | 0.9816 | likely_pathogenic | 0.9847 | pathogenic | -1.466 | Destabilizing | 0.998 | D | 0.83 | deleterious | None | None | None | None | N |
| A/I | 0.3345 | likely_benign | 0.3556 | ambiguous | -0.424 | Destabilizing | 0.514 | D | 0.757 | deleterious | None | None | None | None | N |
| A/K | 0.9884 | likely_pathogenic | 0.9905 | pathogenic | -1.29 | Destabilizing | 0.956 | D | 0.815 | deleterious | None | None | None | None | N |
| A/L | 0.4333 | ambiguous | 0.4465 | ambiguous | -0.424 | Destabilizing | 0.754 | D | 0.708 | prob.delet. | None | None | None | None | N |
| A/M | 0.5413 | ambiguous | 0.5694 | pathogenic | -0.779 | Destabilizing | 0.988 | D | 0.813 | deleterious | None | None | None | None | N |
| A/N | 0.9513 | likely_pathogenic | 0.9613 | pathogenic | -1.399 | Destabilizing | 0.956 | D | 0.847 | deleterious | None | None | None | None | N |
| A/P | 0.9676 | likely_pathogenic | 0.9736 | pathogenic | -0.641 | Destabilizing | 0.971 | D | 0.826 | deleterious | D | 0.830703563 | None | None | N |
| A/Q | 0.9579 | likely_pathogenic | 0.9629 | pathogenic | -1.492 | Destabilizing | 0.978 | D | 0.812 | deleterious | None | None | None | None | N |
| A/R | 0.9716 | likely_pathogenic | 0.9741 | pathogenic | -1.071 | Destabilizing | 0.956 | D | 0.822 | deleterious | None | None | None | None | N |
| A/S | 0.258 | likely_benign | 0.2741 | benign | -1.866 | Destabilizing | 0.698 | D | 0.642 | neutral | D | 0.760815492 | None | None | N |
| A/T | 0.2287 | likely_benign | 0.2419 | benign | -1.691 | Destabilizing | 0.032 | N | 0.379 | neutral | D | 0.776702479 | None | None | N |
| A/V | 0.141 | likely_benign | 0.1434 | benign | -0.641 | Destabilizing | 0.014 | N | 0.343 | neutral | D | 0.590685667 | None | None | N |
| A/W | 0.9889 | likely_pathogenic | 0.9907 | pathogenic | -1.56 | Destabilizing | 0.998 | D | 0.823 | deleterious | None | None | None | None | N |
| A/Y | 0.95 | likely_pathogenic | 0.9587 | pathogenic | -1.129 | Destabilizing | 0.978 | D | 0.857 | 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.