Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21909 | 65950;65951;65952 | chr2:178583078;178583077;178583076 | chr2:179447805;179447804;179447803 |
| N2AB | 20268 | 61027;61028;61029 | chr2:178583078;178583077;178583076 | chr2:179447805;179447804;179447803 |
| N2A | 19341 | 58246;58247;58248 | chr2:178583078;178583077;178583076 | chr2:179447805;179447804;179447803 |
| N2B | 12844 | 38755;38756;38757 | chr2:178583078;178583077;178583076 | chr2:179447805;179447804;179447803 |
| Novex-1 | 12969 | 39130;39131;39132 | chr2:178583078;178583077;178583076 | chr2:179447805;179447804;179447803 |
| Novex-2 | 13036 | 39331;39332;39333 | chr2:178583078;178583077;178583076 | chr2:179447805;179447804;179447803 |
| 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/C | rs878898044  |
-0.352 | 0.98 | N | 0.638 | 0.425 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/C | rs878898044 |
-0.352 | 0.98 | N | 0.638 | 0.425 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/C | rs878898044 |
-0.352 | 0.98 | N | 0.638 | 0.425 | None | gnomAD-4.0.0 | 1.86184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54546E-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 | 0.2299 | likely_benign | 0.2406 | benign | -0.263 | Destabilizing | 0.477 | N | 0.37 | neutral | N | 0.492667919 | None | None | N |
| G/C | 0.3163 | likely_benign | 0.3209 | benign | -0.726 | Destabilizing | 0.98 | D | 0.638 | neutral | N | 0.483101986 | None | None | N |
| G/D | 0.2486 | likely_benign | 0.2601 | benign | -0.07 | Destabilizing | 0.928 | D | 0.557 | neutral | N | 0.467270829 | None | None | N |
| G/E | 0.2838 | likely_benign | 0.3161 | benign | -0.181 | Destabilizing | 0.894 | D | 0.582 | neutral | None | None | None | None | N |
| G/F | 0.7322 | likely_pathogenic | 0.7416 | pathogenic | -0.753 | Destabilizing | 0.894 | D | 0.649 | neutral | None | None | None | None | N |
| G/H | 0.4411 | ambiguous | 0.452 | ambiguous | -0.689 | Destabilizing | 0.985 | D | 0.561 | neutral | None | None | None | None | N |
| G/I | 0.4752 | ambiguous | 0.4935 | ambiguous | -0.158 | Destabilizing | 0.017 | N | 0.405 | neutral | None | None | None | None | N |
| G/K | 0.4936 | ambiguous | 0.5351 | ambiguous | -0.753 | Destabilizing | 0.809 | D | 0.557 | neutral | None | None | None | None | N |
| G/L | 0.698 | likely_pathogenic | 0.6982 | pathogenic | -0.158 | Destabilizing | 0.547 | D | 0.547 | neutral | None | None | None | None | N |
| G/M | 0.6363 | likely_pathogenic | 0.6418 | pathogenic | -0.312 | Destabilizing | 0.97 | D | 0.641 | neutral | None | None | None | None | N |
| G/N | 0.2321 | likely_benign | 0.2351 | benign | -0.411 | Destabilizing | 0.894 | D | 0.542 | neutral | None | None | None | None | N |
| G/P | 0.9071 | likely_pathogenic | 0.8935 | pathogenic | -0.154 | Destabilizing | 0.981 | D | 0.569 | neutral | None | None | None | None | N |
| G/Q | 0.4454 | ambiguous | 0.4623 | ambiguous | -0.575 | Destabilizing | 0.894 | D | 0.574 | neutral | None | None | None | None | N |
| G/R | 0.4252 | ambiguous | 0.4601 | ambiguous | -0.489 | Destabilizing | 0.029 | N | 0.319 | neutral | N | 0.410737182 | None | None | N |
| G/S | 0.1658 | likely_benign | 0.1642 | benign | -0.671 | Destabilizing | 0.864 | D | 0.532 | neutral | N | 0.479661337 | None | None | N |
| G/T | 0.2564 | likely_benign | 0.2638 | benign | -0.689 | Destabilizing | 0.894 | D | 0.554 | neutral | None | None | None | None | N |
| G/V | 0.3229 | likely_benign | 0.3405 | ambiguous | -0.154 | Destabilizing | 0.013 | N | 0.406 | neutral | N | 0.492841278 | None | None | N |
| G/W | 0.6048 | likely_pathogenic | 0.607 | pathogenic | -1.024 | Destabilizing | 0.995 | D | 0.565 | neutral | None | None | None | None | N |
| G/Y | 0.5065 | ambiguous | 0.5202 | ambiguous | -0.612 | Destabilizing | 0.945 | D | 0.644 | neutral | 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.