Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19749 | 59470;59471;59472 | chr2:178592874;178592873;178592872 | chr2:179457601;179457600;179457599 |
| N2AB | 18108 | 54547;54548;54549 | chr2:178592874;178592873;178592872 | chr2:179457601;179457600;179457599 |
| N2A | 17181 | 51766;51767;51768 | chr2:178592874;178592873;178592872 | chr2:179457601;179457600;179457599 |
| N2B | 10684 | 32275;32276;32277 | chr2:178592874;178592873;178592872 | chr2:179457601;179457600;179457599 |
| Novex-1 | 10809 | 32650;32651;32652 | chr2:178592874;178592873;178592872 | chr2:179457601;179457600;179457599 |
| Novex-2 | 10876 | 32851;32852;32853 | chr2:178592874;178592873;178592872 | chr2:179457601;179457600;179457599 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1414991035  |
-0.83 | 0.896 | N | 0.393 | 0.294 | 0.338834610459 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1414991035 |
-0.83 | 0.896 | N | 0.393 | 0.294 | 0.338834610459 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1414991035 |
-0.83 | 0.896 | N | 0.393 | 0.294 | 0.338834610459 | gnomAD-4.0.0 | 2.56316E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85625E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs2050531286 |
None | 0.103 | N | 0.216 | 0.234 | 0.241078983079 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| D/N | rs2050531286 |
None | 0.103 | N | 0.216 | 0.234 | 0.241078983079 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1283 | likely_benign | 0.1232 | benign | -0.448 | Destabilizing | 0.896 | D | 0.44 | neutral | N | 0.433686692 | None | None | N |
| D/C | 0.4971 | ambiguous | 0.4927 | ambiguous | -0.065 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| D/E | 0.1092 | likely_benign | 0.1032 | benign | -0.518 | Destabilizing | 0.028 | N | 0.097 | neutral | N | 0.328348738 | None | None | N |
| D/F | 0.5353 | ambiguous | 0.5458 | ambiguous | -0.328 | Destabilizing | 0.996 | D | 0.579 | neutral | None | None | None | None | N |
| D/G | 0.1532 | likely_benign | 0.1516 | benign | -0.694 | Destabilizing | 0.896 | D | 0.393 | neutral | N | 0.498508961 | None | None | N |
| D/H | 0.2449 | likely_benign | 0.2384 | benign | -0.362 | Destabilizing | 0.984 | D | 0.412 | neutral | N | 0.468879488 | None | None | N |
| D/I | 0.3151 | likely_benign | 0.3011 | benign | 0.165 | Stabilizing | 0.988 | D | 0.57 | neutral | None | None | None | None | N |
| D/K | 0.2946 | likely_benign | 0.2758 | benign | 0.013 | Stabilizing | 0.851 | D | 0.383 | neutral | None | None | None | None | N |
| D/L | 0.3405 | ambiguous | 0.3353 | benign | 0.165 | Stabilizing | 0.976 | D | 0.551 | neutral | None | None | None | None | N |
| D/M | 0.5265 | ambiguous | 0.5 | ambiguous | 0.43 | Stabilizing | 0.999 | D | 0.558 | neutral | None | None | None | None | N |
| D/N | 0.0979 | likely_benign | 0.0939 | benign | -0.318 | Destabilizing | 0.103 | N | 0.216 | neutral | N | 0.430918532 | None | None | N |
| D/P | 0.3676 | ambiguous | 0.3651 | ambiguous | -0.016 | Destabilizing | 0.988 | D | 0.407 | neutral | None | None | None | None | N |
| D/Q | 0.2576 | likely_benign | 0.2428 | benign | -0.268 | Destabilizing | 0.952 | D | 0.41 | neutral | None | None | None | None | N |
| D/R | 0.3431 | ambiguous | 0.3366 | benign | 0.188 | Stabilizing | 0.976 | D | 0.478 | neutral | None | None | None | None | N |
| D/S | 0.1179 | likely_benign | 0.1137 | benign | -0.454 | Destabilizing | 0.919 | D | 0.408 | neutral | None | None | None | None | N |
| D/T | 0.2192 | likely_benign | 0.2054 | benign | -0.265 | Destabilizing | 0.919 | D | 0.407 | neutral | None | None | None | None | N |
| D/V | 0.1799 | likely_benign | 0.1714 | benign | -0.016 | Destabilizing | 0.984 | D | 0.547 | neutral | N | 0.45685434 | None | None | N |
| D/W | 0.8268 | likely_pathogenic | 0.8314 | pathogenic | -0.178 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| D/Y | 0.1856 | likely_benign | 0.194 | benign | -0.097 | Destabilizing | 0.995 | D | 0.581 | neutral | N | 0.509283315 | 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.