Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18352 | 55279;55280;55281 | chr2:178602348;178602347;178602346 | chr2:179467075;179467074;179467073 |
| N2AB | 16711 | 50356;50357;50358 | chr2:178602348;178602347;178602346 | chr2:179467075;179467074;179467073 |
| N2A | 15784 | 47575;47576;47577 | chr2:178602348;178602347;178602346 | chr2:179467075;179467074;179467073 |
| N2B | 9287 | 28084;28085;28086 | chr2:178602348;178602347;178602346 | chr2:179467075;179467074;179467073 |
| Novex-1 | 9412 | 28459;28460;28461 | chr2:178602348;178602347;178602346 | chr2:179467075;179467074;179467073 |
| Novex-2 | 9479 | 28660;28661;28662 | chr2:178602348;178602347;178602346 | chr2:179467075;179467074;179467073 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs769334194  |
-0.648 | 0.997 | N | 0.479 | 0.237 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 1.74297E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/I | rs769334194 |
-0.648 | 0.997 | N | 0.479 | 0.237 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 1.96876E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs769334194 |
-0.648 | 0.997 | N | 0.479 | 0.237 | None | gnomAD-4.0.0 | 2.18026E-05 | None | None | None | None | N | None | 0 | 1.69727E-04 | None | 0 | 0 | None | 0 | 0 | 1.67692E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3095 | likely_benign | 0.3512 | ambiguous | -2.068 | Highly Destabilizing | 0.999 | D | 0.566 | neutral | N | 0.482202701 | None | None | N |
| V/C | 0.7471 | likely_pathogenic | 0.7633 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/D | 0.7985 | likely_pathogenic | 0.8388 | pathogenic | -2.487 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.512374504 | None | None | N |
| V/E | 0.4807 | ambiguous | 0.5162 | ambiguous | -2.352 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| V/F | 0.2495 | likely_benign | 0.2776 | benign | -1.316 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.498434078 | None | None | N |
| V/G | 0.5167 | ambiguous | 0.5525 | ambiguous | -2.513 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.515083529 | None | None | N |
| V/H | 0.7963 | likely_pathogenic | 0.816 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/I | 0.0802 | likely_benign | 0.0772 | benign | -0.865 | Destabilizing | 0.997 | D | 0.479 | neutral | N | 0.503595068 | None | None | N |
| V/K | 0.5043 | ambiguous | 0.521 | ambiguous | -1.637 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| V/L | 0.2997 | likely_benign | 0.312 | benign | -0.865 | Destabilizing | 0.997 | D | 0.533 | neutral | N | 0.482314378 | None | None | N |
| V/M | 0.1895 | likely_benign | 0.2073 | benign | -1.013 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| V/N | 0.6645 | likely_pathogenic | 0.6961 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/P | 0.9878 | likely_pathogenic | 0.9896 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/Q | 0.439 | ambiguous | 0.467 | ambiguous | -1.792 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/R | 0.4476 | ambiguous | 0.464 | ambiguous | -1.284 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/S | 0.4416 | ambiguous | 0.4954 | ambiguous | -2.396 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/T | 0.3219 | likely_benign | 0.364 | ambiguous | -2.137 | Highly Destabilizing | 0.999 | D | 0.551 | neutral | None | None | None | None | N |
| V/W | 0.8755 | likely_pathogenic | 0.8926 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Y | 0.7042 | likely_pathogenic | 0.7249 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.787 | 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.