Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17919 | 53980;53981;53982 | chr2:178605540;178605539;178605538 | chr2:179470267;179470266;179470265 |
| N2AB | 16278 | 49057;49058;49059 | chr2:178605540;178605539;178605538 | chr2:179470267;179470266;179470265 |
| N2A | 15351 | 46276;46277;46278 | chr2:178605540;178605539;178605538 | chr2:179470267;179470266;179470265 |
| N2B | 8854 | 26785;26786;26787 | chr2:178605540;178605539;178605538 | chr2:179470267;179470266;179470265 |
| Novex-1 | 8979 | 27160;27161;27162 | chr2:178605540;178605539;178605538 | chr2:179470267;179470266;179470265 |
| Novex-2 | 9046 | 27361;27362;27363 | chr2:178605540;178605539;178605538 | chr2:179470267;179470266;179470265 |
| 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 | rs199605903  |
-0.517 | 0.042 | N | 0.243 | 0.239 | 0.115124310173 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 0 |
| T/A | rs199605903 |
-0.517 | 0.042 | N | 0.243 | 0.239 | 0.115124310173 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/A | rs199605903 |
-0.517 | 0.042 | N | 0.243 | 0.239 | 0.115124310173 | gnomAD-4.0.0 | 1.73665E-05 | None | None | None | None | N | None | 0 | 1.66884E-05 | None | 0 | 0 | None | 0 | 0 | 2.03579E-05 | 0 | 4.80785E-05 |
| T/I | rs1192046645 |
0.018 | 0.096 | N | 0.407 | 0.236 | 0.1749357433 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1192046645 |
0.018 | 0.096 | N | 0.407 | 0.236 | 0.1749357433 | gnomAD-4.0.0 | 6.58345E-06 | None | None | None | None | N | None | 2.41581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1192046645 |
None | None | N | 0.14 | 0.207 | 0.126345400529 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs1192046645 |
None | None | N | 0.14 | 0.207 | 0.126345400529 | gnomAD-4.0.0 | 2.03044E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41017E-06 | 0 | 0 |
| T/S | None | None | 0.042 | N | 0.286 | 0.206 | 0.101711395817 | gnomAD-4.0.0 | 6.84742E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00096E-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 | 0.0643 | likely_benign | 0.0734 | benign | -0.866 | Destabilizing | 0.042 | N | 0.243 | neutral | N | 0.4391568 | None | None | N |
| T/C | 0.3097 | likely_benign | 0.3983 | ambiguous | -0.495 | Destabilizing | 0.958 | D | 0.439 | neutral | None | None | None | None | N |
| T/D | 0.1685 | likely_benign | 0.224 | benign | 0.078 | Stabilizing | 0.001 | N | 0.269 | neutral | None | None | None | None | N |
| T/E | 0.1479 | likely_benign | 0.1872 | benign | 0.127 | Stabilizing | 0.055 | N | 0.38 | neutral | None | None | None | None | N |
| T/F | 0.2008 | likely_benign | 0.2632 | benign | -1.029 | Destabilizing | 0.331 | N | 0.523 | neutral | None | None | None | None | N |
| T/G | 0.1264 | likely_benign | 0.1407 | benign | -1.125 | Destabilizing | None | N | 0.315 | neutral | None | None | None | None | N |
| T/H | 0.1439 | likely_benign | 0.2085 | benign | -1.125 | Destabilizing | 0.497 | N | 0.455 | neutral | None | None | None | None | N |
| T/I | 0.1602 | likely_benign | 0.2161 | benign | -0.255 | Destabilizing | 0.096 | N | 0.407 | neutral | N | 0.472424012 | None | None | N |
| T/K | 0.1246 | likely_benign | 0.1666 | benign | -0.381 | Destabilizing | 0.001 | N | 0.257 | neutral | None | None | None | None | N |
| T/L | 0.099 | likely_benign | 0.1237 | benign | -0.255 | Destabilizing | 0.055 | N | 0.375 | neutral | None | None | None | None | N |
| T/M | 0.0956 | likely_benign | 0.1123 | benign | -0.29 | Destabilizing | 0.667 | D | 0.464 | neutral | None | None | None | None | N |
| T/N | 0.0728 | likely_benign | 0.0934 | benign | -0.525 | Destabilizing | None | N | 0.14 | neutral | N | 0.431748039 | None | None | N |
| T/P | 0.3861 | ambiguous | 0.4748 | ambiguous | -0.428 | Destabilizing | 0.301 | N | 0.541 | neutral | N | 0.473018658 | None | None | N |
| T/Q | 0.1216 | likely_benign | 0.1693 | benign | -0.522 | Destabilizing | 0.22 | N | 0.542 | neutral | None | None | None | None | N |
| T/R | 0.1239 | likely_benign | 0.1752 | benign | -0.218 | Destabilizing | 0.124 | N | 0.503 | neutral | None | None | None | None | N |
| T/S | 0.0725 | likely_benign | 0.0843 | benign | -0.852 | Destabilizing | 0.042 | N | 0.286 | neutral | N | 0.426014145 | None | None | N |
| T/V | 0.1095 | likely_benign | 0.1328 | benign | -0.428 | Destabilizing | 0.004 | N | 0.145 | neutral | None | None | None | None | N |
| T/W | 0.5621 | ambiguous | 0.6821 | pathogenic | -1.045 | Destabilizing | 0.883 | D | 0.459 | neutral | None | None | None | None | N |
| T/Y | 0.2103 | likely_benign | 0.2912 | benign | -0.744 | Destabilizing | 0.001 | N | 0.314 | 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.