Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30533 | 91822;91823;91824 | chr2:178550241;178550240;178550239 | chr2:179414968;179414967;179414966 |
| N2AB | 28892 | 86899;86900;86901 | chr2:178550241;178550240;178550239 | chr2:179414968;179414967;179414966 |
| N2A | 27965 | 84118;84119;84120 | chr2:178550241;178550240;178550239 | chr2:179414968;179414967;179414966 |
| N2B | 21468 | 64627;64628;64629 | chr2:178550241;178550240;178550239 | chr2:179414968;179414967;179414966 |
| Novex-1 | 21593 | 65002;65003;65004 | chr2:178550241;178550240;178550239 | chr2:179414968;179414967;179414966 |
| Novex-2 | 21660 | 65203;65204;65205 | chr2:178550241;178550240;178550239 | chr2:179414968;179414967;179414966 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs1427348681  |
-2.681 | 0.912 | N | 0.463 | 0.339 | 0.772727890375 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/S | rs1427348681 |
-2.681 | 0.912 | N | 0.463 | 0.339 | 0.772727890375 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs1427348681 |
-2.681 | 0.912 | N | 0.463 | 0.339 | 0.772727890375 | gnomAD-4.0.0 | 1.85964E-06 | None | None | None | None | N | None | 1.33536E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69557E-06 | 0 | 0 |
| F/Y | None | None | 0.912 | N | 0.443 | 0.217 | 0.54285271628 | gnomAD-4.0.0 | 6.84454E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99682E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.2855 | likely_benign | 0.3043 | benign | -0.567 | Destabilizing | 0.85 | D | 0.475 | neutral | None | None | None | None | N |
| F/C | 0.2785 | likely_benign | 0.2924 | benign | -0.363 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.495805091 | None | None | N |
| F/D | 0.5015 | ambiguous | 0.548 | ambiguous | 0.568 | Stabilizing | 0.932 | D | 0.534 | neutral | None | None | None | None | N |
| F/E | 0.5117 | ambiguous | 0.5272 | ambiguous | 0.527 | Stabilizing | 0.873 | D | 0.483 | neutral | None | None | None | None | N |
| F/G | 0.4873 | ambiguous | 0.5254 | ambiguous | -0.649 | Destabilizing | 0.965 | D | 0.497 | neutral | None | None | None | None | N |
| F/H | 0.3802 | ambiguous | 0.3871 | ambiguous | 0.134 | Stabilizing | 0.041 | N | 0.417 | neutral | None | None | None | None | N |
| F/I | 0.1782 | likely_benign | 0.193 | benign | -0.398 | Destabilizing | 0.122 | N | 0.285 | neutral | N | 0.475485747 | None | None | N |
| F/K | 0.4848 | ambiguous | 0.4677 | ambiguous | -0.066 | Destabilizing | 0.873 | D | 0.491 | neutral | None | None | None | None | N |
| F/L | 0.7122 | likely_pathogenic | 0.7182 | pathogenic | -0.398 | Destabilizing | 0.013 | N | 0.289 | neutral | N | 0.47305873 | None | None | N |
| F/M | 0.3714 | ambiguous | 0.3653 | ambiguous | -0.509 | Destabilizing | 0.98 | D | 0.538 | neutral | None | None | None | None | N |
| F/N | 0.4204 | ambiguous | 0.4468 | ambiguous | -0.068 | Destabilizing | 0.932 | D | 0.564 | neutral | None | None | None | None | N |
| F/P | 0.8661 | likely_pathogenic | 0.9012 | pathogenic | -0.439 | Destabilizing | 0.997 | D | 0.569 | neutral | None | None | None | None | N |
| F/Q | 0.4222 | ambiguous | 0.42 | ambiguous | -0.044 | Destabilizing | 0.348 | N | 0.51 | neutral | None | None | None | None | N |
| F/R | 0.3724 | ambiguous | 0.3638 | ambiguous | 0.107 | Stabilizing | 0.932 | D | 0.565 | neutral | None | None | None | None | N |
| F/S | 0.2118 | likely_benign | 0.2386 | benign | -0.533 | Destabilizing | 0.912 | D | 0.463 | neutral | N | 0.476352539 | None | None | N |
| F/T | 0.2381 | likely_benign | 0.2425 | benign | -0.503 | Destabilizing | 0.932 | D | 0.465 | neutral | None | None | None | None | N |
| F/V | 0.171 | likely_benign | 0.1769 | benign | -0.439 | Destabilizing | 0.055 | N | 0.399 | neutral | N | 0.493724791 | None | None | N |
| F/W | 0.4693 | ambiguous | 0.4814 | ambiguous | -0.61 | Destabilizing | 0.999 | D | 0.537 | neutral | None | None | None | None | N |
| F/Y | 0.149 | likely_benign | 0.1545 | benign | -0.512 | Destabilizing | 0.912 | D | 0.443 | neutral | N | 0.494764941 | 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.