Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6241 | 18946;18947;18948 | chr2:178729435;178729434;178729433 | chr2:179594162;179594161;179594160 |
| N2AB | 5924 | 17995;17996;17997 | chr2:178729435;178729434;178729433 | chr2:179594162;179594161;179594160 |
| N2A | 4997 | 15214;15215;15216 | chr2:178729435;178729434;178729433 | chr2:179594162;179594161;179594160 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.99 | D | 0.382 | 0.437 | 0.365703291355 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/N | None | None | 0.999 | N | 0.441 | 0.312 | 0.343788945184 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | rs1015857991  |
-0.018 | 0.999 | D | 0.527 | 0.528 | 0.421427970867 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/R | rs1015857991 |
-0.018 | 0.999 | D | 0.527 | 0.528 | 0.421427970867 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1015857991 |
-0.018 | 0.999 | D | 0.527 | 0.528 | 0.421427970867 | gnomAD-4.0.0 | 4.33843E-06 | None | None | None | None | N | None | 4.00641E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.3908E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0771 | likely_benign | 0.0841 | benign | -0.299 | Destabilizing | 0.964 | D | 0.385 | neutral | None | None | None | None | N |
| S/C | 0.1423 | likely_benign | 0.1601 | benign | -0.319 | Destabilizing | 1.0 | D | 0.567 | neutral | D | 0.526997537 | None | None | N |
| S/D | 0.3709 | ambiguous | 0.3617 | ambiguous | 0.416 | Stabilizing | 0.993 | D | 0.404 | neutral | None | None | None | None | N |
| S/E | 0.4471 | ambiguous | 0.4541 | ambiguous | 0.319 | Stabilizing | 0.993 | D | 0.402 | neutral | None | None | None | None | N |
| S/F | 0.1826 | likely_benign | 0.2037 | benign | -0.995 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | N |
| S/G | 0.0761 | likely_benign | 0.0799 | benign | -0.373 | Destabilizing | 0.99 | D | 0.382 | neutral | D | 0.533350333 | None | None | N |
| S/H | 0.2841 | likely_benign | 0.2829 | benign | -0.844 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | N |
| S/I | 0.1381 | likely_benign | 0.1471 | benign | -0.237 | Destabilizing | 0.999 | D | 0.596 | neutral | N | 0.491269553 | None | None | N |
| S/K | 0.4848 | ambiguous | 0.4858 | ambiguous | -0.292 | Destabilizing | 0.993 | D | 0.409 | neutral | None | None | None | None | N |
| S/L | 0.0935 | likely_benign | 0.1091 | benign | -0.237 | Destabilizing | 0.998 | D | 0.491 | neutral | None | None | None | None | N |
| S/M | 0.1855 | likely_benign | 0.2075 | benign | -0.116 | Destabilizing | 1.0 | D | 0.557 | neutral | None | None | None | None | N |
| S/N | 0.1095 | likely_benign | 0.1113 | benign | -0.081 | Destabilizing | 0.999 | D | 0.441 | neutral | N | 0.502662066 | None | None | N |
| S/P | 0.0783 | likely_benign | 0.086 | benign | -0.231 | Destabilizing | 0.08 | N | 0.242 | neutral | None | None | None | None | N |
| S/Q | 0.374 | ambiguous | 0.377 | ambiguous | -0.281 | Destabilizing | 0.999 | D | 0.451 | neutral | None | None | None | None | N |
| S/R | 0.4141 | ambiguous | 0.3935 | ambiguous | -0.158 | Destabilizing | 0.999 | D | 0.527 | neutral | D | 0.534081051 | None | None | N |
| S/T | 0.0811 | likely_benign | 0.0911 | benign | -0.2 | Destabilizing | 0.99 | D | 0.417 | neutral | D | 0.530598029 | None | None | N |
| S/V | 0.1509 | likely_benign | 0.1661 | benign | -0.231 | Destabilizing | 0.998 | D | 0.505 | neutral | None | None | None | None | N |
| S/W | 0.2859 | likely_benign | 0.3005 | benign | -1.033 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| S/Y | 0.1534 | likely_benign | 0.1672 | benign | -0.723 | Destabilizing | 0.999 | D | 0.604 | 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.