Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7705 | 23338;23339;23340 | chr2:178720649;178720648;178720647 | chr2:179585376;179585375;179585374 |
| N2AB | 7388 | 22387;22388;22389 | chr2:178720649;178720648;178720647 | chr2:179585376;179585375;179585374 |
| N2A | 6461 | 19606;19607;19608 | chr2:178720649;178720648;178720647 | chr2:179585376;179585375;179585374 |
| 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 | rs772162626  |
0.137 | None | N | 0.141 | 0.037 | 0.0297737177859 | gnomAD-2.1.1 | 3.1E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.65E-05 | 0 |
| T/I | rs772162626 |
0.137 | None | N | 0.141 | 0.037 | 0.0297737177859 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs772162626 |
0.137 | None | N | 0.141 | 0.037 | 0.0297737177859 | gnomAD-4.0.0 | 1.00511E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10953E-05 | 0 | 4.88361E-05 |
| T/S | rs772162626 |
None | None | N | 0.068 | 0.084 | 0.0762999501168 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 1.31165E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs772162626 |
None | None | N | 0.068 | 0.084 | 0.0762999501168 | gnomAD-4.0.0 | 2.51278E-06 | None | None | None | None | I | None | 0 | 5.37461E-05 | None | 0 | 0 | None | 0 | 0 | 8.53486E-07 | 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 | 0.0887 | likely_benign | 0.0818 | benign | -0.697 | Destabilizing | 0.005 | N | 0.19 | neutral | N | 0.509504241 | None | None | I |
| T/C | 0.3384 | likely_benign | 0.3111 | benign | -0.404 | Destabilizing | 0.676 | D | 0.285 | neutral | None | None | None | None | I |
| T/D | 0.3609 | ambiguous | 0.3107 | benign | 0.121 | Stabilizing | 0.038 | N | 0.387 | neutral | None | None | None | None | I |
| T/E | 0.2743 | likely_benign | 0.2428 | benign | 0.105 | Stabilizing | 0.038 | N | 0.347 | neutral | None | None | None | None | I |
| T/F | 0.1334 | likely_benign | 0.1204 | benign | -0.831 | Destabilizing | 0.214 | N | 0.4 | neutral | None | None | None | None | I |
| T/G | 0.2339 | likely_benign | 0.2062 | benign | -0.931 | Destabilizing | 0.038 | N | 0.335 | neutral | None | None | None | None | I |
| T/H | 0.1638 | likely_benign | 0.1504 | benign | -1.133 | Destabilizing | 0.676 | D | 0.304 | neutral | None | None | None | None | I |
| T/I | 0.0784 | likely_benign | 0.0695 | benign | -0.176 | Destabilizing | None | N | 0.141 | neutral | N | 0.453994888 | None | None | I |
| T/K | 0.1479 | likely_benign | 0.1418 | benign | -0.572 | Destabilizing | 0.038 | N | 0.33 | neutral | None | None | None | None | I |
| T/L | 0.0588 | likely_benign | 0.0539 | benign | -0.176 | Destabilizing | 0.002 | N | 0.227 | neutral | None | None | None | None | I |
| T/M | 0.0802 | likely_benign | 0.0756 | benign | 0.03 | Stabilizing | 0.007 | N | 0.232 | neutral | None | None | None | None | I |
| T/N | 0.1091 | likely_benign | 0.097 | benign | -0.464 | Destabilizing | 0.029 | N | 0.293 | neutral | N | 0.464708243 | None | None | I |
| T/P | 0.226 | likely_benign | 0.2119 | benign | -0.317 | Destabilizing | 0.171 | N | 0.384 | neutral | N | 0.467924247 | None | None | I |
| T/Q | 0.1735 | likely_benign | 0.1656 | benign | -0.627 | Destabilizing | 0.214 | N | 0.365 | neutral | None | None | None | None | I |
| T/R | 0.1053 | likely_benign | 0.1041 | benign | -0.31 | Destabilizing | 0.214 | N | 0.38 | neutral | None | None | None | None | I |
| T/S | 0.0921 | likely_benign | 0.0833 | benign | -0.772 | Destabilizing | None | N | 0.068 | neutral | N | 0.466137466 | None | None | I |
| T/V | 0.0898 | likely_benign | 0.0804 | benign | -0.317 | Destabilizing | None | N | 0.076 | neutral | None | None | None | None | I |
| T/W | 0.4308 | ambiguous | 0.3988 | ambiguous | -0.766 | Destabilizing | 0.864 | D | 0.331 | neutral | None | None | None | None | I |
| T/Y | 0.1841 | likely_benign | 0.1684 | benign | -0.533 | Destabilizing | 0.356 | N | 0.368 | 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.