Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14359 | 43300;43301;43302 | chr2:178633198;178633197;178633196 | chr2:179497925;179497924;179497923 |
| N2AB | 12718 | 38377;38378;38379 | chr2:178633198;178633197;178633196 | chr2:179497925;179497924;179497923 |
| N2A | 11791 | 35596;35597;35598 | chr2:178633198;178633197;178633196 | chr2:179497925;179497924;179497923 |
| N2B | 5294 | 16105;16106;16107 | chr2:178633198;178633197;178633196 | chr2:179497925;179497924;179497923 |
| Novex-1 | 5419 | 16480;16481;16482 | chr2:178633198;178633197;178633196 | chr2:179497925;179497924;179497923 |
| Novex-2 | 5486 | 16681;16682;16683 | chr2:178633198;178633197;178633196 | chr2:179497925;179497924;179497923 |
| 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 | rs1472230536  |
None | 0.451 | N | 0.545 | 0.127 | 0.0762999501168 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| T/A | rs1472230536 |
None | 0.451 | N | 0.545 | 0.127 | 0.0762999501168 | gnomAD-4.0.0 | 9.5637E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88423E-05 | 0 | 1.14488E-05 | 0 | 3.02939E-05 |
| T/I | rs779102939 |
None | 0.966 | N | 0.452 | 0.269 | 0.239305524855 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| T/I | rs779102939 |
None | 0.966 | N | 0.452 | 0.269 | 0.239305524855 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs779102939 |
None | 0.966 | N | 0.452 | 0.269 | 0.239305524855 | gnomAD-4.0.0 | 1.17837E-05 | None | None | None | None | N | None | 1.33583E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4417E-05 | 0 | 1.60313E-05 |
| T/R | None | None | 0.933 | N | 0.465 | 0.28 | 0.322786055943 | gnomAD-4.0.0 | 1.36958E-06 | None | None | None | None | N | None | 2.99276E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99962E-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 | 0.0954 | likely_benign | 0.0935 | benign | -0.175 | Destabilizing | 0.451 | N | 0.545 | neutral | N | 0.461309046 | None | None | N |
| T/C | 0.5582 | ambiguous | 0.5587 | ambiguous | -0.38 | Destabilizing | 0.998 | D | 0.493 | neutral | None | None | None | None | N |
| T/D | 0.3738 | ambiguous | 0.3329 | benign | 0.12 | Stabilizing | 0.841 | D | 0.529 | neutral | None | None | None | None | N |
| T/E | 0.2455 | likely_benign | 0.2271 | benign | 0.038 | Stabilizing | 0.841 | D | 0.515 | neutral | None | None | None | None | N |
| T/F | 0.2508 | likely_benign | 0.228 | benign | -0.852 | Destabilizing | 0.991 | D | 0.625 | neutral | None | None | None | None | N |
| T/G | 0.3542 | ambiguous | 0.326 | benign | -0.241 | Destabilizing | 0.725 | D | 0.56 | neutral | None | None | None | None | N |
| T/H | 0.2611 | likely_benign | 0.2529 | benign | -0.413 | Destabilizing | 0.998 | D | 0.599 | neutral | None | None | None | None | N |
| T/I | 0.1345 | likely_benign | 0.1226 | benign | -0.123 | Destabilizing | 0.966 | D | 0.452 | neutral | N | 0.421076109 | None | None | N |
| T/K | 0.1771 | likely_benign | 0.1617 | benign | -0.238 | Destabilizing | 0.799 | D | 0.527 | neutral | N | 0.429450015 | None | None | N |
| T/L | 0.1003 | likely_benign | 0.097 | benign | -0.123 | Destabilizing | 0.841 | D | 0.477 | neutral | None | None | None | None | N |
| T/M | 0.1003 | likely_benign | 0.0967 | benign | -0.19 | Destabilizing | 0.998 | D | 0.469 | neutral | None | None | None | None | N |
| T/N | 0.147 | likely_benign | 0.1336 | benign | -0.11 | Destabilizing | 0.841 | D | 0.496 | neutral | None | None | None | None | N |
| T/P | 0.1557 | likely_benign | 0.1462 | benign | -0.116 | Destabilizing | 0.966 | D | 0.446 | neutral | N | 0.436068338 | None | None | N |
| T/Q | 0.2221 | likely_benign | 0.2068 | benign | -0.274 | Destabilizing | 0.974 | D | 0.461 | neutral | None | None | None | None | N |
| T/R | 0.1708 | likely_benign | 0.1572 | benign | 0.014 | Stabilizing | 0.933 | D | 0.465 | neutral | N | 0.43362993 | None | None | N |
| T/S | 0.1315 | likely_benign | 0.125 | benign | -0.267 | Destabilizing | 0.022 | N | 0.22 | neutral | N | 0.408866507 | None | None | N |
| T/V | 0.1217 | likely_benign | 0.1184 | benign | -0.116 | Destabilizing | 0.841 | D | 0.427 | neutral | None | None | None | None | N |
| T/W | 0.6812 | likely_pathogenic | 0.6532 | pathogenic | -0.952 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/Y | 0.3374 | likely_benign | 0.3226 | benign | -0.613 | Destabilizing | 0.991 | D | 0.631 | 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.