Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20909 | 62950;62951;62952 | chr2:178589000;178588999;178588998 | chr2:179453727;179453726;179453725 |
| N2AB | 19268 | 58027;58028;58029 | chr2:178589000;178588999;178588998 | chr2:179453727;179453726;179453725 |
| N2A | 18341 | 55246;55247;55248 | chr2:178589000;178588999;178588998 | chr2:179453727;179453726;179453725 |
| N2B | 11844 | 35755;35756;35757 | chr2:178589000;178588999;178588998 | chr2:179453727;179453726;179453725 |
| Novex-1 | 11969 | 36130;36131;36132 | chr2:178589000;178588999;178588998 | chr2:179453727;179453726;179453725 |
| Novex-2 | 12036 | 36331;36332;36333 | chr2:178589000;178588999;178588998 | chr2:179453727;179453726;179453725 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/T | rs1474501322  |
-0.556 | 0.994 | N | 0.348 | 0.436 | 0.771801801482 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.61E-05 | 0 | 0 |
| M/T | rs1474501322 |
-0.556 | 0.994 | N | 0.348 | 0.436 | 0.771801801482 | gnomAD-4.0.0 | 5.48116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.33787E-04 | 0 | 8.99789E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.5325 | ambiguous | 0.5337 | ambiguous | -0.508 | Destabilizing | 0.989 | D | 0.382 | neutral | None | None | None | None | N |
| M/C | 0.7667 | likely_pathogenic | 0.781 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.327 | neutral | None | None | None | None | N |
| M/D | 0.8919 | likely_pathogenic | 0.9115 | pathogenic | 0.338 | Stabilizing | 0.999 | D | 0.5 | neutral | None | None | None | None | N |
| M/E | 0.7518 | likely_pathogenic | 0.7855 | pathogenic | 0.285 | Stabilizing | 0.999 | D | 0.373 | neutral | None | None | None | None | N |
| M/F | 0.527 | ambiguous | 0.5256 | ambiguous | -0.189 | Destabilizing | 0.999 | D | 0.259 | neutral | None | None | None | None | N |
| M/G | 0.5271 | ambiguous | 0.5057 | ambiguous | -0.679 | Destabilizing | 0.995 | D | 0.45 | neutral | None | None | None | None | N |
| M/H | 0.6382 | likely_pathogenic | 0.6701 | pathogenic | 0.128 | Stabilizing | 1.0 | D | 0.452 | neutral | None | None | None | None | N |
| M/I | 0.7038 | likely_pathogenic | 0.7476 | pathogenic | -0.149 | Destabilizing | 0.985 | D | 0.385 | neutral | N | 0.492313708 | None | None | N |
| M/K | 0.3452 | ambiguous | 0.3965 | ambiguous | 0.396 | Stabilizing | 0.994 | D | 0.326 | neutral | N | 0.429051663 | None | None | N |
| M/L | 0.1704 | likely_benign | 0.1796 | benign | -0.149 | Destabilizing | 0.927 | D | 0.215 | neutral | N | 0.464857748 | None | None | N |
| M/N | 0.5609 | ambiguous | 0.5537 | ambiguous | 0.592 | Stabilizing | 0.999 | D | 0.427 | neutral | None | None | None | None | N |
| M/P | 0.8562 | likely_pathogenic | 0.88 | pathogenic | -0.241 | Destabilizing | 0.999 | D | 0.425 | neutral | None | None | None | None | N |
| M/Q | 0.3296 | likely_benign | 0.3347 | benign | 0.427 | Stabilizing | 0.999 | D | 0.267 | neutral | None | None | None | None | N |
| M/R | 0.3595 | ambiguous | 0.4189 | ambiguous | 0.887 | Stabilizing | 0.998 | D | 0.288 | neutral | N | 0.468975488 | None | None | N |
| M/S | 0.5819 | likely_pathogenic | 0.58 | pathogenic | 0.129 | Stabilizing | 0.995 | D | 0.335 | neutral | None | None | None | None | N |
| M/T | 0.4969 | ambiguous | 0.5264 | ambiguous | 0.177 | Stabilizing | 0.994 | D | 0.348 | neutral | N | 0.469012774 | None | None | N |
| M/V | 0.2198 | likely_benign | 0.2643 | benign | -0.241 | Destabilizing | 0.985 | D | 0.329 | neutral | N | 0.494487221 | None | None | N |
| M/W | 0.7738 | likely_pathogenic | 0.8074 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.379 | neutral | None | None | None | None | N |
| M/Y | 0.6655 | likely_pathogenic | 0.708 | pathogenic | -0.022 | Destabilizing | 0.999 | D | 0.305 | 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.