Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17766 | 53521;53522;53523 | chr2:178607306;178607305;178607304 | chr2:179472033;179472032;179472031 |
| N2AB | 16125 | 48598;48599;48600 | chr2:178607306;178607305;178607304 | chr2:179472033;179472032;179472031 |
| N2A | 15198 | 45817;45818;45819 | chr2:178607306;178607305;178607304 | chr2:179472033;179472032;179472031 |
| N2B | 8701 | 26326;26327;26328 | chr2:178607306;178607305;178607304 | chr2:179472033;179472032;179472031 |
| Novex-1 | 8826 | 26701;26702;26703 | chr2:178607306;178607305;178607304 | chr2:179472033;179472032;179472031 |
| Novex-2 | 8893 | 26902;26903;26904 | chr2:178607306;178607305;178607304 | chr2:179472033;179472032;179472031 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.665 | 0.472 | 0.379707525713 | gnomAD-4.0.0 | 1.36965E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70977E-05 | 0 | 1.65942E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6571 | likely_pathogenic | 0.5841 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.624 | neutral | N | 0.491092428 | None | None | N |
| G/C | 0.9151 | likely_pathogenic | 0.8604 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.510971109 | None | None | N |
| G/D | 0.9517 | likely_pathogenic | 0.9203 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.483277613 | None | None | N |
| G/E | 0.9733 | likely_pathogenic | 0.9238 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/F | 0.989 | likely_pathogenic | 0.9743 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/H | 0.9871 | likely_pathogenic | 0.9737 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/I | 0.9888 | likely_pathogenic | 0.9654 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/K | 0.9898 | likely_pathogenic | 0.9706 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/L | 0.9704 | likely_pathogenic | 0.9376 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/M | 0.986 | likely_pathogenic | 0.9679 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/N | 0.9629 | likely_pathogenic | 0.9405 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| G/P | 0.9978 | likely_pathogenic | 0.9964 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/Q | 0.9767 | likely_pathogenic | 0.9443 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/R | 0.9776 | likely_pathogenic | 0.9392 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.509703662 | None | None | N |
| G/S | 0.4985 | ambiguous | 0.4482 | ambiguous | -1.399 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.470512049 | None | None | N |
| G/T | 0.9343 | likely_pathogenic | 0.8661 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/V | 0.9768 | likely_pathogenic | 0.9348 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.492613365 | None | None | N |
| G/W | 0.9857 | likely_pathogenic | 0.967 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/Y | 0.9855 | likely_pathogenic | 0.9669 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.745 | deleterious | 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.