Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5521 | 16786;16787;16788 | chr2:178732500;178732499;178732498 | chr2:179597227;179597226;179597225 |
| N2AB | 5204 | 15835;15836;15837 | chr2:178732500;178732499;178732498 | chr2:179597227;179597226;179597225 |
| N2A | 4277 | 13054;13055;13056 | chr2:178732500;178732499;178732498 | chr2:179597227;179597226;179597225 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs777565819  |
-1.221 | 0.051 | N | 0.332 | 0.265 | 0.190952846119 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/A | rs777565819 |
-1.221 | 0.051 | N | 0.332 | 0.265 | 0.190952846119 | gnomAD-4.0.0 | 1.36857E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79906E-06 | 0 | 0 |
| T/I | None | None | 0.012 | N | 0.467 | 0.224 | 0.362960570912 | gnomAD-4.0.0 | 6.84278E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 0 | 0 |
| T/K | None | None | 0.801 | N | 0.707 | 0.262 | 0.419835214384 | gnomAD-4.0.0 | 6.84278E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 0 | 0 |
| T/R | None | None | 0.934 | N | 0.695 | 0.256 | 0.565131857978 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 1.1598E-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 | 0.1045 | likely_benign | 0.1094 | benign | -1.335 | Destabilizing | 0.051 | N | 0.332 | neutral | N | 0.47925778 | None | None | N |
| T/C | 0.4022 | ambiguous | 0.4192 | ambiguous | -0.929 | Destabilizing | 0.998 | D | 0.658 | neutral | None | None | None | None | N |
| T/D | 0.4514 | ambiguous | 0.5007 | ambiguous | -1.872 | Destabilizing | 0.949 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/E | 0.3506 | ambiguous | 0.3912 | ambiguous | -1.635 | Destabilizing | 0.842 | D | 0.702 | prob.neutral | None | None | None | None | N |
| T/F | 0.1728 | likely_benign | 0.1809 | benign | -0.961 | Destabilizing | 0.949 | D | 0.695 | prob.neutral | None | None | None | None | N |
| T/G | 0.3261 | likely_benign | 0.3454 | ambiguous | -1.746 | Destabilizing | 0.728 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/H | 0.2081 | likely_benign | 0.2164 | benign | -1.764 | Destabilizing | 0.998 | D | 0.675 | neutral | None | None | None | None | N |
| T/I | 0.0992 | likely_benign | 0.1077 | benign | -0.238 | Destabilizing | 0.012 | N | 0.467 | neutral | N | 0.456531942 | None | None | N |
| T/K | 0.2154 | likely_benign | 0.2305 | benign | -0.391 | Destabilizing | 0.801 | D | 0.707 | prob.neutral | N | 0.510603106 | None | None | N |
| T/L | 0.0915 | likely_benign | 0.097 | benign | -0.238 | Destabilizing | 0.525 | D | 0.663 | neutral | None | None | None | None | N |
| T/M | 0.093 | likely_benign | 0.0965 | benign | -0.357 | Destabilizing | 0.949 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/N | 0.1508 | likely_benign | 0.1603 | benign | -1.204 | Destabilizing | 0.949 | D | 0.676 | prob.neutral | None | None | None | None | N |
| T/P | 0.7202 | likely_pathogenic | 0.7446 | pathogenic | -0.576 | Destabilizing | 0.966 | D | 0.697 | prob.neutral | N | 0.514758728 | None | None | N |
| T/Q | 0.2386 | likely_benign | 0.2547 | benign | -0.914 | Destabilizing | 0.974 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/R | 0.1473 | likely_benign | 0.156 | benign | -0.705 | Destabilizing | 0.934 | D | 0.695 | prob.neutral | N | 0.513315337 | None | None | N |
| T/S | 0.1083 | likely_benign | 0.1161 | benign | -1.4 | Destabilizing | 0.051 | N | 0.49 | neutral | N | 0.451362801 | None | None | N |
| T/V | 0.0996 | likely_benign | 0.105 | benign | -0.576 | Destabilizing | 0.016 | N | 0.343 | neutral | None | None | None | None | N |
| T/W | 0.5157 | ambiguous | 0.5305 | ambiguous | -1.172 | Destabilizing | 0.998 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2383 | likely_benign | 0.2484 | benign | -0.771 | Destabilizing | 0.991 | D | 0.697 | prob.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.