Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30251 | 90976;90977;90978 | chr2:178552149;178552148;178552147 | chr2:179416876;179416875;179416874 |
| N2AB | 28610 | 86053;86054;86055 | chr2:178552149;178552148;178552147 | chr2:179416876;179416875;179416874 |
| N2A | 27683 | 83272;83273;83274 | chr2:178552149;178552148;178552147 | chr2:179416876;179416875;179416874 |
| N2B | 21186 | 63781;63782;63783 | chr2:178552149;178552148;178552147 | chr2:179416876;179416875;179416874 |
| Novex-1 | 21311 | 64156;64157;64158 | chr2:178552149;178552148;178552147 | chr2:179416876;179416875;179416874 |
| Novex-2 | 21378 | 64357;64358;64359 | chr2:178552149;178552148;178552147 | chr2:179416876;179416875;179416874 |
| 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 | rs374014652  |
-0.566 | 0.996 | N | 0.557 | 0.483 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 1.29199E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs374014652 |
-0.566 | 0.996 | N | 0.557 | 0.483 | None | gnomAD-4.0.0 | 3.18245E-06 | None | None | None | None | N | None | 1.13122E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs768172616 |
-0.529 | 1.0 | N | 0.655 | 0.358 | 0.328222422547 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85814E-06 | 0 | 0 |
| D/N | rs768172616 |
None | 0.999 | N | 0.633 | 0.404 | 0.299427821978 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| D/N | rs768172616 |
None | 0.999 | N | 0.633 | 0.404 | 0.299427821978 | gnomAD-4.0.0 | 6.57134E-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 | 0.5947 | likely_pathogenic | 0.5389 | ambiguous | -0.234 | Destabilizing | 0.992 | D | 0.548 | neutral | N | 0.498410174 | None | None | N |
| D/C | 0.8474 | likely_pathogenic | 0.8181 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/E | 0.3086 | likely_benign | 0.2878 | benign | -0.301 | Destabilizing | 0.619 | D | 0.189 | neutral | N | 0.497023307 | None | None | N |
| D/F | 0.8439 | likely_pathogenic | 0.8023 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/G | 0.5349 | ambiguous | 0.4624 | ambiguous | -0.403 | Destabilizing | 0.996 | D | 0.557 | neutral | N | 0.478024148 | None | None | N |
| D/H | 0.7254 | likely_pathogenic | 0.6732 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.514302346 | None | None | N |
| D/I | 0.7276 | likely_pathogenic | 0.6534 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/K | 0.8337 | likely_pathogenic | 0.7808 | pathogenic | 0.371 | Stabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | N |
| D/L | 0.7778 | likely_pathogenic | 0.7379 | pathogenic | 0.154 | Stabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/M | 0.8725 | likely_pathogenic | 0.8542 | pathogenic | 0.406 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| D/N | 0.2378 | likely_benign | 0.2064 | benign | 0.205 | Stabilizing | 0.999 | D | 0.633 | neutral | N | 0.503103918 | None | None | N |
| D/P | 0.9881 | likely_pathogenic | 0.9814 | pathogenic | 0.046 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| D/Q | 0.7354 | likely_pathogenic | 0.6915 | pathogenic | 0.214 | Stabilizing | 0.998 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/R | 0.8526 | likely_pathogenic | 0.8131 | pathogenic | 0.398 | Stabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/S | 0.4226 | ambiguous | 0.3822 | ambiguous | 0.105 | Stabilizing | 0.994 | D | 0.551 | neutral | None | None | None | None | N |
| D/T | 0.6206 | likely_pathogenic | 0.5715 | pathogenic | 0.231 | Stabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | N |
| D/V | 0.5341 | ambiguous | 0.4577 | ambiguous | 0.046 | Stabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.518438729 | None | None | N |
| D/W | 0.9633 | likely_pathogenic | 0.9545 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/Y | 0.4768 | ambiguous | 0.4016 | ambiguous | -0.186 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.417871877 | 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.