Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9722 | 29389;29390;29391 | chr2:178706710;178706709;178706708 | chr2:179571437;179571436;179571435 |
| N2AB | 9405 | 28438;28439;28440 | chr2:178706710;178706709;178706708 | chr2:179571437;179571436;179571435 |
| N2A | 8478 | 25657;25658;25659 | chr2:178706710;178706709;178706708 | chr2:179571437;179571436;179571435 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs758659809  |
-0.514 | 1.0 | None | 0.735 | 0.421 | 0.638638447811 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| G/R | rs758659809 |
-0.514 | 1.0 | None | 0.735 | 0.421 | 0.638638447811 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs758659809 |
-0.514 | 1.0 | None | 0.735 | 0.421 | 0.638638447811 | gnomAD-4.0.0 | 7.45356E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.0194E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.324 | likely_benign | 0.2465 | benign | -0.289 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | I |
| G/C | 0.7787 | likely_pathogenic | 0.5838 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/D | 0.8972 | likely_pathogenic | 0.7746 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| G/E | 0.8482 | likely_pathogenic | 0.6986 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/F | 0.9655 | likely_pathogenic | 0.9027 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/H | 0.9398 | likely_pathogenic | 0.8335 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/I | 0.8738 | likely_pathogenic | 0.7273 | pathogenic | 0.384 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| G/K | 0.8917 | likely_pathogenic | 0.7803 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/L | 0.9164 | likely_pathogenic | 0.8232 | pathogenic | 0.384 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/M | 0.9331 | likely_pathogenic | 0.8483 | pathogenic | 0.253 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/N | 0.9231 | likely_pathogenic | 0.8193 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.994 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| G/Q | 0.8556 | likely_pathogenic | 0.6924 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| G/R | 0.8177 | likely_pathogenic | 0.6149 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/S | 0.3788 | ambiguous | 0.2313 | benign | -1.002 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/T | 0.6982 | likely_pathogenic | 0.4788 | ambiguous | -0.861 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/V | 0.7974 | likely_pathogenic | 0.6049 | pathogenic | 0.205 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/W | 0.9395 | likely_pathogenic | 0.8224 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9458 | likely_pathogenic | 0.851 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.749 | 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.