Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30086 | 90481;90482;90483 | chr2:178552644;178552643;178552642 | chr2:179417371;179417370;179417369 |
| N2AB | 28445 | 85558;85559;85560 | chr2:178552644;178552643;178552642 | chr2:179417371;179417370;179417369 |
| N2A | 27518 | 82777;82778;82779 | chr2:178552644;178552643;178552642 | chr2:179417371;179417370;179417369 |
| N2B | 21021 | 63286;63287;63288 | chr2:178552644;178552643;178552642 | chr2:179417371;179417370;179417369 |
| Novex-1 | 21146 | 63661;63662;63663 | chr2:178552644;178552643;178552642 | chr2:179417371;179417370;179417369 |
| Novex-2 | 21213 | 63862;63863;63864 | chr2:178552644;178552643;178552642 | chr2:179417371;179417370;179417369 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs372568082  |
-0.579 | 0.999 | N | 0.707 | 0.502 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 1.65303E-04 | 0 | None | 0 | 1.02564E-04 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs372568082 |
-0.579 | 0.999 | N | 0.707 | 0.502 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs372568082 |
-0.579 | 0.999 | N | 0.707 | 0.502 | None | gnomAD-4.0.0 | 8.96638E-06 | None | None | None | None | N | None | 1.01468E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39258E-06 | 0 | 0 |
| C/S | rs372568082 |
-1.431 | 0.997 | N | 0.526 | 0.431 | 0.583804852878 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| C/S | rs372568082 |
-1.431 | 0.997 | N | 0.526 | 0.431 | 0.583804852878 | gnomAD-4.0.0 | 4.7731E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57329E-06 | 0 | 0 |
| C/Y | rs1699883953 |
None | 0.999 | N | 0.653 | 0.324 | 0.650169478884 | gnomAD-4.0.0 | 2.05249E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69825E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.3908 | ambiguous | 0.3365 | benign | -1.903 | Destabilizing | 0.982 | D | 0.44 | neutral | None | None | None | None | N |
| C/D | 0.8231 | likely_pathogenic | 0.7645 | pathogenic | -0.395 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| C/E | 0.8486 | likely_pathogenic | 0.798 | pathogenic | -0.23 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| C/F | 0.4798 | ambiguous | 0.3975 | ambiguous | -1.251 | Destabilizing | 0.994 | D | 0.637 | neutral | N | 0.489985479 | None | None | N |
| C/G | 0.1643 | likely_benign | 0.1369 | benign | -2.25 | Highly Destabilizing | 0.999 | D | 0.658 | neutral | N | 0.475279124 | None | None | N |
| C/H | 0.6905 | likely_pathogenic | 0.6192 | pathogenic | -2.179 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/I | 0.7524 | likely_pathogenic | 0.6996 | pathogenic | -0.982 | Destabilizing | 0.971 | D | 0.486 | neutral | None | None | None | None | N |
| C/K | 0.7975 | likely_pathogenic | 0.7552 | pathogenic | -0.812 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| C/L | 0.3924 | ambiguous | 0.382 | ambiguous | -0.982 | Destabilizing | 0.08 | N | 0.327 | neutral | None | None | None | None | N |
| C/M | 0.5918 | likely_pathogenic | 0.5558 | ambiguous | 0.082 | Stabilizing | 0.996 | D | 0.629 | neutral | None | None | None | None | N |
| C/N | 0.452 | ambiguous | 0.3962 | ambiguous | -1.096 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| C/P | 0.6279 | likely_pathogenic | 0.5682 | pathogenic | -1.265 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| C/Q | 0.6132 | likely_pathogenic | 0.559 | ambiguous | -0.822 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| C/R | 0.462 | ambiguous | 0.405 | ambiguous | -0.906 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.459142497 | None | None | N |
| C/S | 0.3202 | likely_benign | 0.2583 | benign | -1.634 | Destabilizing | 0.997 | D | 0.526 | neutral | N | 0.465721752 | None | None | N |
| C/T | 0.3538 | ambiguous | 0.3214 | benign | -1.261 | Destabilizing | 0.993 | D | 0.525 | neutral | None | None | None | None | N |
| C/V | 0.5801 | likely_pathogenic | 0.5315 | ambiguous | -1.265 | Destabilizing | 0.971 | D | 0.495 | neutral | None | None | None | None | N |
| C/W | 0.7699 | likely_pathogenic | 0.685 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.475786103 | None | None | N |
| C/Y | 0.544 | ambiguous | 0.4504 | ambiguous | -1.249 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.475532613 | 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.