Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5477 | 16654;16655;16656 | chr2:178732632;178732631;178732630 | chr2:179597359;179597358;179597357 |
| N2AB | 5160 | 15703;15704;15705 | chr2:178732632;178732631;178732630 | chr2:179597359;179597358;179597357 |
| N2A | 4233 | 12922;12923;12924 | chr2:178732632;178732631;178732630 | chr2:179597359;179597358;179597357 |
| 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/I | rs2080755955  |
None | 0.01 | N | 0.42 | 0.125 | 0.252162846088 | 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 |
| T/I | rs2080755955 |
None | 0.01 | N | 0.42 | 0.125 | 0.252162846088 | gnomAD-4.0.0 | 1.23974E-06 | None | None | None | None | I | None | 1.33551E-05 | 0 | None | 0 | 2.23244E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs756878354 |
-0.121 | None | N | 0.165 | 0.213 | 0.0551355673512 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs756878354 |
-0.121 | None | N | 0.165 | 0.213 | 0.0551355673512 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs756878354 |
-0.121 | None | N | 0.165 | 0.213 | 0.0551355673512 | gnomAD-4.0.0 | 6.58605E-06 | None | None | None | None | I | None | 2.42002E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0563 | likely_benign | 0.0571 | benign | -0.131 | Destabilizing | None | N | 0.066 | neutral | N | 0.412904067 | None | None | I |
| T/C | 0.3209 | likely_benign | 0.332 | benign | -0.37 | Destabilizing | 0.676 | D | 0.394 | neutral | None | None | None | None | I |
| T/D | 0.1969 | likely_benign | 0.2436 | benign | 0.107 | Stabilizing | 0.038 | N | 0.423 | neutral | None | None | None | None | I |
| T/E | 0.1532 | likely_benign | 0.1911 | benign | 0.022 | Stabilizing | 0.072 | N | 0.411 | neutral | None | None | None | None | I |
| T/F | 0.1243 | likely_benign | 0.1326 | benign | -0.777 | Destabilizing | 0.214 | N | 0.389 | neutral | None | None | None | None | I |
| T/G | 0.1517 | likely_benign | 0.1689 | benign | -0.199 | Destabilizing | None | N | 0.117 | neutral | None | None | None | None | I |
| T/H | 0.1487 | likely_benign | 0.1658 | benign | -0.335 | Destabilizing | 0.356 | N | 0.387 | neutral | None | None | None | None | I |
| T/I | 0.0825 | likely_benign | 0.0817 | benign | -0.075 | Destabilizing | 0.01 | N | 0.42 | neutral | N | 0.474203242 | None | None | I |
| T/K | 0.1055 | likely_benign | 0.1248 | benign | -0.247 | Destabilizing | 0.072 | N | 0.424 | neutral | None | None | None | None | I |
| T/L | 0.0573 | likely_benign | 0.056 | benign | -0.075 | Destabilizing | 0.016 | N | 0.345 | neutral | None | None | None | None | I |
| T/M | 0.0704 | likely_benign | 0.0699 | benign | -0.172 | Destabilizing | 0.214 | N | 0.407 | neutral | None | None | None | None | I |
| T/N | 0.0848 | likely_benign | 0.0882 | benign | -0.068 | Destabilizing | 0.001 | N | 0.193 | neutral | N | 0.451691741 | None | None | I |
| T/P | 0.0565 | likely_benign | 0.0558 | benign | -0.069 | Destabilizing | None | N | 0.165 | neutral | N | 0.270959447 | None | None | I |
| T/Q | 0.1204 | likely_benign | 0.1377 | benign | -0.255 | Destabilizing | 0.356 | N | 0.425 | neutral | None | None | None | None | I |
| T/R | 0.0938 | likely_benign | 0.1081 | benign | 0.032 | Stabilizing | 0.072 | N | 0.461 | neutral | None | None | None | None | I |
| T/S | 0.0745 | likely_benign | 0.0785 | benign | -0.238 | Destabilizing | 0.012 | N | 0.375 | neutral | N | 0.411037197 | None | None | I |
| T/V | 0.0715 | likely_benign | 0.0713 | benign | -0.069 | Destabilizing | None | N | 0.147 | neutral | None | None | None | None | I |
| T/W | 0.3829 | ambiguous | 0.4344 | ambiguous | -0.872 | Destabilizing | 0.864 | D | 0.389 | neutral | None | None | None | None | I |
| T/Y | 0.1495 | likely_benign | 0.166 | benign | -0.539 | Destabilizing | 0.356 | N | 0.387 | 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.