Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29788 | 89587;89588;89589 | chr2:178553643;178553642;178553641 | chr2:179418370;179418369;179418368 |
| N2AB | 28147 | 84664;84665;84666 | chr2:178553643;178553642;178553641 | chr2:179418370;179418369;179418368 |
| N2A | 27220 | 81883;81884;81885 | chr2:178553643;178553642;178553641 | chr2:179418370;179418369;179418368 |
| N2B | 20723 | 62392;62393;62394 | chr2:178553643;178553642;178553641 | chr2:179418370;179418369;179418368 |
| Novex-1 | 20848 | 62767;62768;62769 | chr2:178553643;178553642;178553641 | chr2:179418370;179418369;179418368 |
| Novex-2 | 20915 | 62968;62969;62970 | chr2:178553643;178553642;178553641 | chr2:179418370;179418369;179418368 |
| 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/E | rs1700219498  |
None | 0.032 | N | 0.386 | 0.241 | 0.162503812791 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1700219498 |
None | 0.032 | N | 0.386 | 0.241 | 0.162503812791 | gnomAD-4.0.0 | 6.57203E-06 | None | None | None | None | I | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs761199633 |
-0.187 | 0.942 | N | 0.626 | 0.294 | 0.488407942198 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs761199633 |
-0.187 | 0.942 | N | 0.626 | 0.294 | 0.488407942198 | gnomAD-4.0.0 | 3.18227E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 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 | 0.1755 | likely_benign | 0.1674 | benign | -0.339 | Destabilizing | 0.489 | N | 0.496 | neutral | N | 0.443349112 | None | None | I |
| G/C | 0.2926 | likely_benign | 0.2843 | benign | -0.869 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/D | 0.1896 | likely_benign | 0.1986 | benign | -0.466 | Destabilizing | 0.754 | D | 0.526 | neutral | None | None | None | None | I |
| G/E | 0.1959 | likely_benign | 0.1995 | benign | -0.635 | Destabilizing | 0.032 | N | 0.386 | neutral | N | 0.413527637 | None | None | I |
| G/F | 0.6684 | likely_pathogenic | 0.6848 | pathogenic | -1.098 | Destabilizing | 0.993 | D | 0.674 | neutral | None | None | None | None | I |
| G/H | 0.4315 | ambiguous | 0.4587 | ambiguous | -0.628 | Destabilizing | 0.994 | D | 0.619 | neutral | None | None | None | None | I |
| G/I | 0.4163 | ambiguous | 0.4147 | ambiguous | -0.508 | Destabilizing | 0.978 | D | 0.675 | prob.neutral | None | None | None | None | I |
| G/K | 0.4277 | ambiguous | 0.451 | ambiguous | -0.719 | Destabilizing | 0.754 | D | 0.563 | neutral | None | None | None | None | I |
| G/L | 0.5178 | ambiguous | 0.5203 | ambiguous | -0.508 | Destabilizing | 0.956 | D | 0.599 | neutral | None | None | None | None | I |
| G/M | 0.5097 | ambiguous | 0.5083 | ambiguous | -0.484 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | I |
| G/N | 0.2401 | likely_benign | 0.2608 | benign | -0.366 | Destabilizing | 0.956 | D | 0.497 | neutral | None | None | None | None | I |
| G/P | 0.7733 | likely_pathogenic | 0.7751 | pathogenic | -0.42 | Destabilizing | 0.019 | N | 0.349 | neutral | None | None | None | None | I |
| G/Q | 0.3557 | ambiguous | 0.3684 | ambiguous | -0.669 | Destabilizing | 0.915 | D | 0.615 | neutral | None | None | None | None | I |
| G/R | 0.3664 | ambiguous | 0.3806 | ambiguous | -0.329 | Destabilizing | 0.942 | D | 0.626 | neutral | N | 0.449504293 | None | None | I |
| G/S | 0.1357 | likely_benign | 0.1381 | benign | -0.514 | Destabilizing | 0.193 | N | 0.284 | neutral | None | None | None | None | I |
| G/T | 0.1762 | likely_benign | 0.1842 | benign | -0.617 | Destabilizing | 0.754 | D | 0.559 | neutral | None | None | None | None | I |
| G/V | 0.2781 | likely_benign | 0.2697 | benign | -0.42 | Destabilizing | 0.97 | D | 0.601 | neutral | N | 0.440407594 | None | None | I |
| G/W | 0.4273 | ambiguous | 0.4298 | ambiguous | -1.221 | Destabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | I |
| G/Y | 0.4448 | ambiguous | 0.4499 | ambiguous | -0.877 | Destabilizing | 0.993 | D | 0.674 | 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.