Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33305 | 100138;100139;100140 | chr2:178537196;178537195;178537194 | chr2:179401923;179401922;179401921 |
| N2AB | 31664 | 95215;95216;95217 | chr2:178537196;178537195;178537194 | chr2:179401923;179401922;179401921 |
| N2A | 30737 | 92434;92435;92436 | chr2:178537196;178537195;178537194 | chr2:179401923;179401922;179401921 |
| N2B | 24240 | 72943;72944;72945 | chr2:178537196;178537195;178537194 | chr2:179401923;179401922;179401921 |
| Novex-1 | 24365 | 73318;73319;73320 | chr2:178537196;178537195;178537194 | chr2:179401923;179401922;179401921 |
| Novex-2 | 24432 | 73519;73520;73521 | chr2:178537196;178537195;178537194 | chr2:179401923;179401922;179401921 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs1553503789  |
None | 0.999 | N | 0.633 | 0.431 | 0.303123707472 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| K/E | rs1553503789 |
None | 0.999 | N | 0.633 | 0.431 | 0.303123707472 | gnomAD-4.0.0 | 1.31427E-05 | None | None | None | None | N | None | 0 | 6.55222E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| K/N | None | None | 1.0 | N | 0.725 | 0.342 | 0.255777322467 | gnomAD-4.0.0 | 1.59584E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6876 | likely_pathogenic | 0.6702 | pathogenic | -0.112 | Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | N |
| K/C | 0.9116 | likely_pathogenic | 0.905 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| K/D | 0.8594 | likely_pathogenic | 0.8263 | pathogenic | 0.212 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/E | 0.451 | ambiguous | 0.3996 | ambiguous | 0.227 | Stabilizing | 0.999 | D | 0.633 | neutral | N | 0.500373044 | None | None | N |
| K/F | 0.967 | likely_pathogenic | 0.9533 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| K/G | 0.7326 | likely_pathogenic | 0.7158 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| K/H | 0.6157 | likely_pathogenic | 0.5732 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| K/I | 0.8226 | likely_pathogenic | 0.794 | pathogenic | 0.398 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/L | 0.7796 | likely_pathogenic | 0.7332 | pathogenic | 0.398 | Stabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| K/M | 0.6905 | likely_pathogenic | 0.642 | pathogenic | 0.29 | Stabilizing | 1.0 | D | 0.591 | neutral | N | 0.512452367 | None | None | N |
| K/N | 0.7435 | likely_pathogenic | 0.7075 | pathogenic | 0.202 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.517286723 | None | None | N |
| K/P | 0.6427 | likely_pathogenic | 0.6388 | pathogenic | 0.257 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| K/Q | 0.2654 | likely_benign | 0.2383 | benign | -0.016 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.519326951 | None | None | N |
| K/R | 0.1039 | likely_benign | 0.1053 | benign | -0.036 | Destabilizing | 0.999 | D | 0.567 | neutral | N | 0.473805305 | None | None | N |
| K/S | 0.7414 | likely_pathogenic | 0.707 | pathogenic | -0.389 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/T | 0.5689 | likely_pathogenic | 0.5326 | ambiguous | -0.214 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.473366566 | None | None | N |
| K/V | 0.7885 | likely_pathogenic | 0.7557 | pathogenic | 0.257 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| K/W | 0.9408 | likely_pathogenic | 0.9242 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/Y | 0.9012 | likely_pathogenic | 0.8756 | pathogenic | 0.133 | Stabilizing | 1.0 | D | 0.663 | 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.