Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6302 | 19129;19130;19131 | chr2:178729134;178729133;178729132 | chr2:179593861;179593860;179593859 |
| N2AB | 5985 | 18178;18179;18180 | chr2:178729134;178729133;178729132 | chr2:179593861;179593860;179593859 |
| N2A | 5058 | 15397;15398;15399 | chr2:178729134;178729133;178729132 | chr2:179593861;179593860;179593859 |
| 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 | None | None | 0.473 | D | 0.287 | 0.124 | 0.404034981753 | gnomAD-4.0.0 | 6.90047E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04143E-07 | 0 | 0 |
| T/N | rs766831279  |
-0.027 | 0.642 | N | 0.18 | 0.13 | 0.380052290102 | gnomAD-2.1.1 | 1.13E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.46E-05 | 0 |
| T/N | rs766831279 |
-0.027 | 0.642 | N | 0.18 | 0.13 | 0.380052290102 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs766831279 |
-0.027 | 0.642 | N | 0.18 | 0.13 | 0.380052290102 | gnomAD-4.0.0 | 3.12243E-06 | None | None | None | None | N | None | 0 | 3.42654E-05 | None | 0 | 0 | None | 0 | 0 | 2.5553E-06 | 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 | 0.0772 | likely_benign | 0.0703 | benign | -0.464 | Destabilizing | 0.425 | N | 0.257 | neutral | D | 0.527632295 | None | None | N |
| T/C | 0.4946 | ambiguous | 0.4915 | ambiguous | -0.343 | Destabilizing | 0.995 | D | 0.335 | neutral | None | None | None | None | N |
| T/D | 0.4252 | ambiguous | 0.3982 | ambiguous | 0.241 | Stabilizing | 0.007 | N | 0.217 | neutral | None | None | None | None | N |
| T/E | 0.3042 | likely_benign | 0.2916 | benign | 0.189 | Stabilizing | 0.031 | N | 0.217 | neutral | None | None | None | None | N |
| T/F | 0.2387 | likely_benign | 0.244 | benign | -0.819 | Destabilizing | 0.893 | D | 0.383 | neutral | None | None | None | None | N |
| T/G | 0.297 | likely_benign | 0.2624 | benign | -0.637 | Destabilizing | 0.704 | D | 0.324 | neutral | None | None | None | None | N |
| T/H | 0.2633 | likely_benign | 0.2553 | benign | -0.911 | Destabilizing | 0.017 | N | 0.237 | neutral | None | None | None | None | N |
| T/I | 0.1517 | likely_benign | 0.149 | benign | -0.123 | Destabilizing | 0.473 | N | 0.287 | neutral | D | 0.53413698 | None | None | N |
| T/K | 0.1863 | likely_benign | 0.1849 | benign | -0.435 | Destabilizing | 0.704 | D | 0.298 | neutral | None | None | None | None | N |
| T/L | 0.0998 | likely_benign | 0.1014 | benign | -0.123 | Destabilizing | 0.144 | N | 0.319 | neutral | None | None | None | None | N |
| T/M | 0.0885 | likely_benign | 0.0905 | benign | 0.01 | Stabilizing | 0.176 | N | 0.257 | neutral | None | None | None | None | N |
| T/N | 0.1425 | likely_benign | 0.1328 | benign | -0.27 | Destabilizing | 0.642 | D | 0.18 | neutral | N | 0.485327616 | None | None | N |
| T/P | 0.2188 | likely_benign | 0.1924 | benign | -0.206 | Destabilizing | 0.917 | D | 0.408 | neutral | N | 0.508231264 | None | None | N |
| T/Q | 0.2163 | likely_benign | 0.208 | benign | -0.463 | Destabilizing | 0.704 | D | 0.383 | neutral | None | None | None | None | N |
| T/R | 0.1402 | likely_benign | 0.1465 | benign | -0.187 | Destabilizing | 0.704 | D | 0.405 | neutral | None | None | None | None | N |
| T/S | 0.1165 | likely_benign | 0.1063 | benign | -0.52 | Destabilizing | 0.425 | N | 0.213 | neutral | N | 0.431548543 | None | None | N |
| T/V | 0.1086 | likely_benign | 0.1079 | benign | -0.206 | Destabilizing | 0.013 | N | 0.082 | neutral | None | None | None | None | N |
| T/W | 0.5952 | likely_pathogenic | 0.5933 | pathogenic | -0.798 | Destabilizing | 0.995 | D | 0.345 | neutral | None | None | None | None | N |
| T/Y | 0.2846 | likely_benign | 0.286 | benign | -0.527 | Destabilizing | 0.893 | D | 0.394 | 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.