Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15442 | 46549;46550;46551 | chr2:178620093;178620092;178620091 | chr2:179484820;179484819;179484818 |
| N2AB | 13801 | 41626;41627;41628 | chr2:178620093;178620092;178620091 | chr2:179484820;179484819;179484818 |
| N2A | 12874 | 38845;38846;38847 | chr2:178620093;178620092;178620091 | chr2:179484820;179484819;179484818 |
| N2B | 6377 | 19354;19355;19356 | chr2:178620093;178620092;178620091 | chr2:179484820;179484819;179484818 |
| Novex-1 | 6502 | 19729;19730;19731 | chr2:178620093;178620092;178620091 | chr2:179484820;179484819;179484818 |
| Novex-2 | 6569 | 19930;19931;19932 | chr2:178620093;178620092;178620091 | chr2:179484820;179484819;179484818 |
| 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/A | rs749908018  |
-0.538 | 1.0 | D | 0.563 | 0.691 | 0.580021155531 | gnomAD-2.1.1 | 8.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.82E-05 | None | 0 | 0 | 0 |
| G/A | rs749908018 |
-0.538 | 1.0 | D | 0.563 | 0.691 | 0.580021155531 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs749908018 |
-0.538 | 1.0 | D | 0.563 | 0.691 | 0.580021155531 | gnomAD-4.0.0 | 3.10578E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48637E-07 | 3.33059E-05 | 1.60498E-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 | 0.3172 | likely_benign | 0.5013 | ambiguous | -0.359 | Destabilizing | 1.0 | D | 0.563 | neutral | D | 0.640944235 | None | None | N |
| G/C | 0.4974 | ambiguous | 0.6982 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/D | 0.3957 | ambiguous | 0.5338 | ambiguous | -0.921 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| G/E | 0.4766 | ambiguous | 0.6634 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.733893975 | None | None | N |
| G/F | 0.8774 | likely_pathogenic | 0.9509 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/H | 0.611 | likely_pathogenic | 0.7662 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| G/I | 0.7426 | likely_pathogenic | 0.905 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| G/K | 0.5604 | ambiguous | 0.7107 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/L | 0.7857 | likely_pathogenic | 0.9225 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/M | 0.8184 | likely_pathogenic | 0.9375 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/N | 0.3517 | ambiguous | 0.5383 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| G/P | 0.959 | likely_pathogenic | 0.9889 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/Q | 0.505 | ambiguous | 0.6968 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| G/R | 0.4404 | ambiguous | 0.5898 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.666110364 | None | None | N |
| G/S | 0.1851 | likely_benign | 0.2743 | benign | -0.592 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/T | 0.4721 | ambiguous | 0.6971 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/V | 0.6406 | likely_pathogenic | 0.8414 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.767188513 | None | None | N |
| G/W | 0.7945 | likely_pathogenic | 0.8961 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/Y | 0.7573 | likely_pathogenic | 0.8883 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.699 | prob.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.