Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7281 | 22066;22067;22068 | chr2:178723166;178723165;178723164 | chr2:179587893;179587892;179587891 |
| N2AB | 6964 | 21115;21116;21117 | chr2:178723166;178723165;178723164 | chr2:179587893;179587892;179587891 |
| N2A | 6037 | 18334;18335;18336 | chr2:178723166;178723165;178723164 | chr2:179587893;179587892;179587891 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1482166056  |
-0.265 | 0.999 | N | 0.465 | 0.34 | 0.367992661779 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/A | rs1482166056 |
-0.265 | 0.999 | N | 0.465 | 0.34 | 0.367992661779 | gnomAD-4.0.0 | 2.73727E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59821E-06 | 0 | 0 |
| T/R | rs2078711757 |
None | 1.0 | N | 0.669 | 0.454 | 0.741619954273 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 0 | 0 | 0 |
| T/R | rs2078711757 |
None | 1.0 | N | 0.669 | 0.454 | 0.741619954273 | gnomAD-4.0.0 | 6.57869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.43752E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1299 | likely_benign | 0.1596 | benign | -0.502 | Destabilizing | 0.999 | D | 0.465 | neutral | N | 0.483592869 | None | None | N |
| T/C | 0.8016 | likely_pathogenic | 0.834 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| T/D | 0.4499 | ambiguous | 0.5256 | ambiguous | 0.258 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/E | 0.433 | ambiguous | 0.5091 | ambiguous | 0.224 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/F | 0.6107 | likely_pathogenic | 0.6727 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| T/G | 0.2643 | likely_benign | 0.3361 | benign | -0.701 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/H | 0.5267 | ambiguous | 0.5877 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/I | 0.613 | likely_pathogenic | 0.6686 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.484695733 | None | None | N |
| T/K | 0.3131 | likely_benign | 0.3726 | ambiguous | -0.444 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.481311464 | None | None | N |
| T/L | 0.2332 | likely_benign | 0.261 | benign | -0.085 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| T/M | 0.1677 | likely_benign | 0.1896 | benign | 0.041 | Stabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | N |
| T/N | 0.192 | likely_benign | 0.2398 | benign | -0.322 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| T/P | 0.4767 | ambiguous | 0.5343 | ambiguous | -0.192 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.491608266 | None | None | N |
| T/Q | 0.3852 | ambiguous | 0.4428 | ambiguous | -0.467 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| T/R | 0.2576 | likely_benign | 0.297 | benign | -0.217 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.488770656 | None | None | N |
| T/S | 0.1283 | likely_benign | 0.1608 | benign | -0.579 | Destabilizing | 0.999 | D | 0.465 | neutral | D | 0.532480754 | None | None | N |
| T/V | 0.4033 | ambiguous | 0.4479 | ambiguous | -0.192 | Destabilizing | 0.999 | D | 0.522 | neutral | None | None | None | None | N |
| T/W | 0.8363 | likely_pathogenic | 0.86 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/Y | 0.6583 | likely_pathogenic | 0.6994 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | 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.