Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32864 | 98815;98816;98817 | chr2:178539475;178539474;178539473 | chr2:179404202;179404201;179404200 |
| N2AB | 31223 | 93892;93893;93894 | chr2:178539475;178539474;178539473 | chr2:179404202;179404201;179404200 |
| N2A | 30296 | 91111;91112;91113 | chr2:178539475;178539474;178539473 | chr2:179404202;179404201;179404200 |
| N2B | 23799 | 71620;71621;71622 | chr2:178539475;178539474;178539473 | chr2:179404202;179404201;179404200 |
| Novex-1 | 23924 | 71995;71996;71997 | chr2:178539475;178539474;178539473 | chr2:179404202;179404201;179404200 |
| Novex-2 | 23991 | 72196;72197;72198 | chr2:178539475;178539474;178539473 | chr2:179404202;179404201;179404200 |
| 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/A | rs201257063  |
-2.303 | 0.999 | N | 0.467 | 0.411 | None | gnomAD-2.1.1 | 1.10552E-04 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 4E-05 | 2.18344E-04 | 0 |
| V/A | rs201257063 |
-2.303 | 0.999 | N | 0.467 | 0.411 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 5.88E-05 | 0 | 0 |
| V/A | rs201257063 |
-2.303 | 0.999 | N | 0.467 | 0.411 | None | gnomAD-4.0.0 | 1.165E-04 | None | None | None | None | N | None | 2.67051E-05 | 3.33367E-05 | None | 0 | 0 | None | 6.24766E-05 | 0 | 1.42397E-04 | 0 | 1.92117E-04 |
| V/E | rs201257063 |
None | 1.0 | N | 0.731 | 0.536 | 0.7122770866 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/E | rs201257063 |
None | 1.0 | N | 0.731 | 0.536 | 0.7122770866 | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | N | None | 0 | 6.54707E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1983 | likely_benign | 0.1693 | benign | -1.866 | Destabilizing | 0.999 | D | 0.467 | neutral | N | 0.42006682 | None | None | N |
| V/C | 0.7211 | likely_pathogenic | 0.6876 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/D | 0.5468 | ambiguous | 0.4493 | ambiguous | -2.339 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/E | 0.3761 | ambiguous | 0.3211 | benign | -2.226 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.474728025 | None | None | N |
| V/F | 0.3041 | likely_benign | 0.2645 | benign | -1.243 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/G | 0.3438 | ambiguous | 0.2908 | benign | -2.294 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.479712557 | None | None | N |
| V/H | 0.658 | likely_pathogenic | 0.599 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/I | 0.0922 | likely_benign | 0.0874 | benign | -0.72 | Destabilizing | 0.997 | D | 0.48 | neutral | N | 0.494353935 | None | None | N |
| V/K | 0.461 | ambiguous | 0.3989 | ambiguous | -1.649 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/L | 0.3024 | likely_benign | 0.2589 | benign | -0.72 | Destabilizing | 0.997 | D | 0.487 | neutral | N | 0.492025706 | None | None | N |
| V/M | 0.1746 | likely_benign | 0.1522 | benign | -0.524 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/N | 0.3675 | ambiguous | 0.3039 | benign | -1.666 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/P | 0.9658 | likely_pathogenic | 0.9513 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/Q | 0.355 | ambiguous | 0.3147 | benign | -1.695 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/R | 0.3912 | ambiguous | 0.3305 | benign | -1.23 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/S | 0.253 | likely_benign | 0.2098 | benign | -2.182 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| V/T | 0.1376 | likely_benign | 0.1251 | benign | -1.958 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| V/W | 0.8805 | likely_pathogenic | 0.8544 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6877 | likely_pathogenic | 0.6259 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.728 | 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.