Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6272 | 19039;19040;19041 | chr2:178729342;178729341;178729340 | chr2:179594069;179594068;179594067 |
| N2AB | 5955 | 18088;18089;18090 | chr2:178729342;178729341;178729340 | chr2:179594069;179594068;179594067 |
| N2A | 5028 | 15307;15308;15309 | chr2:178729342;178729341;178729340 | chr2:179594069;179594068;179594067 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs1385000092  |
-0.731 | 0.08 | N | 0.361 | 0.162 | 0.478068462777 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| I/L | rs1385000092 |
-0.731 | 0.08 | N | 0.361 | 0.162 | 0.478068462777 | gnomAD-4.0.0 | 4.77594E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71948E-06 | 1.4332E-05 | 0 |
| I/T | rs1274096400 |
-1.496 | 0.005 | N | 0.351 | 0.287 | 0.602402279407 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1274096400 |
-1.496 | 0.005 | N | 0.351 | 0.287 | 0.602402279407 | 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 |
| I/T | rs1274096400 |
-1.496 | 0.005 | N | 0.351 | 0.287 | 0.602402279407 | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | None | None | 0.001 | N | 0.218 | 0.078 | 0.530109961917 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85974E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2289 | likely_benign | 0.2199 | benign | -2.034 | Highly Destabilizing | 0.209 | N | 0.484 | neutral | None | None | None | None | N |
| I/C | 0.6734 | likely_pathogenic | 0.6848 | pathogenic | -1.496 | Destabilizing | 0.991 | D | 0.573 | neutral | None | None | None | None | N |
| I/D | 0.6639 | likely_pathogenic | 0.6328 | pathogenic | -1.686 | Destabilizing | 0.818 | D | 0.673 | neutral | None | None | None | None | N |
| I/E | 0.4657 | ambiguous | 0.4404 | ambiguous | -1.645 | Destabilizing | 0.561 | D | 0.649 | neutral | None | None | None | None | N |
| I/F | 0.1275 | likely_benign | 0.1327 | benign | -1.441 | Destabilizing | 0.772 | D | 0.591 | neutral | N | 0.52114904 | None | None | N |
| I/G | 0.6187 | likely_pathogenic | 0.6084 | pathogenic | -2.393 | Highly Destabilizing | 0.561 | D | 0.637 | neutral | None | None | None | None | N |
| I/H | 0.3525 | ambiguous | 0.3739 | ambiguous | -1.526 | Destabilizing | 0.991 | D | 0.655 | neutral | None | None | None | None | N |
| I/K | 0.2628 | likely_benign | 0.2702 | benign | -1.358 | Destabilizing | 0.39 | N | 0.647 | neutral | None | None | None | None | N |
| I/L | 0.1128 | likely_benign | 0.113 | benign | -1.089 | Destabilizing | 0.08 | N | 0.361 | neutral | N | 0.485977673 | None | None | N |
| I/M | 0.0948 | likely_benign | 0.095 | benign | -0.965 | Destabilizing | 0.873 | D | 0.592 | neutral | N | 0.503371355 | None | None | N |
| I/N | 0.2614 | likely_benign | 0.269 | benign | -1.278 | Destabilizing | 0.772 | D | 0.679 | prob.neutral | D | 0.52216776 | None | None | N |
| I/P | 0.9464 | likely_pathogenic | 0.9355 | pathogenic | -1.375 | Destabilizing | 0.901 | D | 0.683 | prob.neutral | None | None | None | None | N |
| I/Q | 0.3438 | ambiguous | 0.3435 | ambiguous | -1.458 | Destabilizing | 0.818 | D | 0.682 | prob.neutral | None | None | None | None | N |
| I/R | 0.1824 | likely_benign | 0.1806 | benign | -0.768 | Destabilizing | 0.004 | N | 0.585 | neutral | None | None | None | None | N |
| I/S | 0.225 | likely_benign | 0.2166 | benign | -1.966 | Destabilizing | 0.326 | N | 0.639 | neutral | N | 0.495154517 | None | None | N |
| I/T | 0.1096 | likely_benign | 0.1068 | benign | -1.806 | Destabilizing | 0.005 | N | 0.351 | neutral | N | 0.444013621 | None | None | N |
| I/V | 0.07 | likely_benign | 0.0704 | benign | -1.375 | Destabilizing | 0.001 | N | 0.218 | neutral | N | 0.436740932 | None | None | N |
| I/W | 0.6806 | likely_pathogenic | 0.6633 | pathogenic | -1.511 | Destabilizing | 0.991 | D | 0.67 | neutral | None | None | None | None | N |
| I/Y | 0.4379 | ambiguous | 0.4587 | ambiguous | -1.287 | Destabilizing | 0.901 | D | 0.613 | 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.