Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 128 | 607;608;609 | chr2:178800596;178800595;178800594 | chr2:179665323;179665322;179665321 |
| N2AB | 128 | 607;608;609 | chr2:178800596;178800595;178800594 | chr2:179665323;179665322;179665321 |
| N2A | 128 | 607;608;609 | chr2:178800596;178800595;178800594 | chr2:179665323;179665322;179665321 |
| N2B | 128 | 607;608;609 | chr2:178800596;178800595;178800594 | chr2:179665323;179665322;179665321 |
| Novex-1 | 128 | 607;608;609 | chr2:178800596;178800595;178800594 | chr2:179665323;179665322;179665321 |
| Novex-2 | 128 | 607;608;609 | chr2:178800596;178800595;178800594 | chr2:179665323;179665322;179665321 |
| Novex-3 | 128 | 607;608;609 | chr2:178800596;178800595;178800594 | chr2:179665323;179665322;179665321 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs769628564  |
-0.827 | 0.982 | N | 0.568 | 0.364 | 0.548737595723 | gnomAD-4.0.0 | 1.36826E-06 | None | None | None | -0.534(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31922E-05 | 0 |
| T/S | rs769628564 |
-0.953 | 0.064 | N | 0.199 | 0.142 | 0.19670166235 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.391(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/S | rs769628564 |
-0.953 | 0.064 | N | 0.199 | 0.142 | 0.19670166235 | gnomAD-4.0.0 | 6.8413E-07 | None | None | None | -0.391(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.141 | likely_benign | 0.1379 | benign | -0.598 | Destabilizing | 0.512 | D | 0.39 | neutral | N | 0.512135613 | None | -0.058(TCAP) | N |
| T/C | 0.8373 | likely_pathogenic | 0.8329 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | -0.015(TCAP) | N |
| T/D | 0.6191 | likely_pathogenic | 0.6036 | pathogenic | -0.139 | Destabilizing | 0.986 | D | 0.618 | neutral | None | None | None | -0.208(TCAP) | N |
| T/E | 0.4299 | ambiguous | 0.4229 | ambiguous | -0.157 | Destabilizing | 0.996 | D | 0.627 | neutral | None | None | None | -0.271(TCAP) | N |
| T/F | 0.5572 | ambiguous | 0.5412 | ambiguous | -0.721 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | 0.047(TCAP) | N |
| T/G | 0.4812 | ambiguous | 0.4562 | ambiguous | -0.84 | Destabilizing | 0.989 | D | 0.54 | neutral | None | None | None | -0.064(TCAP) | N |
| T/H | 0.5358 | ambiguous | 0.53 | ambiguous | -1.15 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | 0.576(TCAP) | N |
| T/I | 0.346 | ambiguous | 0.3468 | ambiguous | -0.055 | Destabilizing | 0.998 | D | 0.695 | prob.neutral | N | 0.512609915 | None | -0.071(TCAP) | N |
| T/K | 0.3431 | ambiguous | 0.3419 | ambiguous | -0.689 | Destabilizing | 0.997 | D | 0.625 | neutral | None | None | None | -0.269(TCAP) | N |
| T/L | 0.2246 | likely_benign | 0.2196 | benign | -0.055 | Destabilizing | 0.99 | D | 0.537 | neutral | None | None | None | -0.071(TCAP) | N |
| T/M | 0.1497 | likely_benign | 0.1493 | benign | 0.167 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | 0.367(TCAP) | N |
| T/N | 0.2401 | likely_benign | 0.2312 | benign | -0.548 | Destabilizing | 0.982 | D | 0.568 | neutral | N | 0.509188829 | None | -0.534(TCAP) | N |
| T/P | 0.5976 | likely_pathogenic | 0.6085 | pathogenic | -0.204 | Destabilizing | 0.991 | D | 0.697 | prob.neutral | D | 0.605461864 | None | -0.061(TCAP) | N |
| T/Q | 0.347 | ambiguous | 0.3427 | ambiguous | -0.707 | Destabilizing | 0.997 | D | 0.703 | prob.neutral | None | None | None | -0.383(TCAP) | N |
| T/R | 0.2868 | likely_benign | 0.2844 | benign | -0.453 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | -0.211(TCAP) | N |
| T/S | 0.1778 | likely_benign | 0.1658 | benign | -0.779 | Destabilizing | 0.064 | N | 0.199 | neutral | N | 0.486223281 | None | -0.391(TCAP) | N |
| T/V | 0.2815 | likely_benign | 0.2771 | benign | -0.204 | Destabilizing | 0.986 | D | 0.472 | neutral | None | None | None | -0.061(TCAP) | N |
| T/W | 0.8334 | likely_pathogenic | 0.8296 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | 0.119(TCAP) | N |
| T/Y | 0.6354 | likely_pathogenic | 0.6294 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | 0.245(TCAP) | 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.