Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20020 | 60283;60284;60285 | chr2:178591761;178591760;178591759 | chr2:179456488;179456487;179456486 |
| N2AB | 18379 | 55360;55361;55362 | chr2:178591761;178591760;178591759 | chr2:179456488;179456487;179456486 |
| N2A | 17452 | 52579;52580;52581 | chr2:178591761;178591760;178591759 | chr2:179456488;179456487;179456486 |
| N2B | 10955 | 33088;33089;33090 | chr2:178591761;178591760;178591759 | chr2:179456488;179456487;179456486 |
| Novex-1 | 11080 | 33463;33464;33465 | chr2:178591761;178591760;178591759 | chr2:179456488;179456487;179456486 |
| Novex-2 | 11147 | 33664;33665;33666 | chr2:178591761;178591760;178591759 | chr2:179456488;179456487;179456486 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1430427636  |
-0.701 | 1.0 | N | 0.575 | 0.377 | 0.273938319068 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| G/D | rs1430427636 |
-0.701 | 1.0 | N | 0.575 | 0.377 | 0.273938319068 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 1.09649E-03 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1430427636 |
-0.701 | 1.0 | N | 0.575 | 0.377 | 0.273938319068 | gnomAD-4.0.0 | 3.71945E-06 | None | None | None | None | N | None | 0 | 1.66867E-05 | None | 0 | 0 | None | 0 | 0 | 3.39109E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2613 | likely_benign | 0.215 | benign | -0.287 | Destabilizing | 1.0 | D | 0.54 | neutral | N | 0.5133852 | None | None | N |
| G/C | 0.4309 | ambiguous | 0.4116 | ambiguous | -0.951 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.528447162 | None | None | N |
| G/D | 0.1475 | likely_benign | 0.1242 | benign | -0.847 | Destabilizing | 1.0 | D | 0.575 | neutral | N | 0.505128289 | None | None | N |
| G/E | 0.2396 | likely_benign | 0.192 | benign | -1.013 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/F | 0.753 | likely_pathogenic | 0.7034 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/H | 0.5088 | ambiguous | 0.4554 | ambiguous | -0.4 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/I | 0.5183 | ambiguous | 0.4451 | ambiguous | -0.55 | Destabilizing | 0.991 | D | 0.588 | neutral | None | None | None | None | N |
| G/K | 0.5597 | ambiguous | 0.4903 | ambiguous | -0.81 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/L | 0.658 | likely_pathogenic | 0.6037 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| G/M | 0.6097 | likely_pathogenic | 0.5524 | ambiguous | -0.659 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/N | 0.1909 | likely_benign | 0.1782 | benign | -0.46 | Destabilizing | 1.0 | D | 0.557 | neutral | None | None | None | None | N |
| G/P | 0.9294 | likely_pathogenic | 0.9061 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/Q | 0.4465 | ambiguous | 0.3834 | ambiguous | -0.766 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/R | 0.5551 | ambiguous | 0.4702 | ambiguous | -0.328 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.524639557 | None | None | N |
| G/S | 0.1567 | likely_benign | 0.1376 | benign | -0.555 | Destabilizing | 1.0 | D | 0.561 | neutral | N | 0.519444381 | None | None | N |
| G/T | 0.2655 | likely_benign | 0.23 | benign | -0.667 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/V | 0.3977 | ambiguous | 0.3238 | benign | -0.437 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.480855893 | None | None | N |
| G/W | 0.6327 | likely_pathogenic | 0.577 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5906 | likely_pathogenic | 0.5299 | ambiguous | -0.886 | Destabilizing | 1.0 | D | 0.741 | 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.