Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32746 | 98461;98462;98463 | chr2:178539829;178539828;178539827 | chr2:179404556;179404555;179404554 |
| N2AB | 31105 | 93538;93539;93540 | chr2:178539829;178539828;178539827 | chr2:179404556;179404555;179404554 |
| N2A | 30178 | 90757;90758;90759 | chr2:178539829;178539828;178539827 | chr2:179404556;179404555;179404554 |
| N2B | 23681 | 71266;71267;71268 | chr2:178539829;178539828;178539827 | chr2:179404556;179404555;179404554 |
| Novex-1 | 23806 | 71641;71642;71643 | chr2:178539829;178539828;178539827 | chr2:179404556;179404555;179404554 |
| Novex-2 | 23873 | 71842;71843;71844 | chr2:178539829;178539828;178539827 | chr2:179404556;179404555;179404554 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1414547750  |
-0.122 | 0.99 | N | 0.469 | 0.165 | 0.257786959452 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/N | rs1410694267 |
0.086 | 0.997 | N | 0.495 | 0.235 | 0.243398259712 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| S/N | rs1410694267 |
0.086 | 0.997 | N | 0.495 | 0.235 | 0.243398259712 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1410694267 |
0.086 | 0.997 | N | 0.495 | 0.235 | 0.243398259712 | gnomAD-4.0.0 | 1.30131E-05 | None | None | None | None | N | None | 1.33461E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52568E-05 | 2.19578E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0968 | likely_benign | 0.1039 | benign | -0.243 | Destabilizing | 0.893 | D | 0.431 | neutral | None | None | None | None | N |
| S/C | 0.1545 | likely_benign | 0.1771 | benign | -0.286 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.472714094 | None | None | N |
| S/D | 0.4689 | ambiguous | 0.5379 | ambiguous | 0.281 | Stabilizing | 0.998 | D | 0.469 | neutral | None | None | None | None | N |
| S/E | 0.4786 | ambiguous | 0.5057 | ambiguous | 0.193 | Stabilizing | 0.992 | D | 0.469 | neutral | None | None | None | None | N |
| S/F | 0.283 | likely_benign | 0.3377 | benign | -0.877 | Destabilizing | 0.986 | D | 0.679 | prob.neutral | None | None | None | None | N |
| S/G | 0.1213 | likely_benign | 0.1319 | benign | -0.348 | Destabilizing | 0.99 | D | 0.469 | neutral | N | 0.487704817 | None | None | N |
| S/H | 0.4032 | ambiguous | 0.4342 | ambiguous | -0.795 | Destabilizing | 0.999 | D | 0.582 | neutral | None | None | None | None | N |
| S/I | 0.2825 | likely_benign | 0.3349 | benign | -0.102 | Destabilizing | 0.1 | N | 0.371 | neutral | N | 0.48209114 | None | None | N |
| S/K | 0.6632 | likely_pathogenic | 0.6798 | pathogenic | -0.382 | Destabilizing | 0.976 | D | 0.467 | neutral | None | None | None | None | N |
| S/L | 0.1263 | likely_benign | 0.1447 | benign | -0.102 | Destabilizing | 0.91 | D | 0.492 | neutral | None | None | None | None | N |
| S/M | 0.2683 | likely_benign | 0.2964 | benign | -0.039 | Destabilizing | 0.996 | D | 0.575 | neutral | None | None | None | None | N |
| S/N | 0.2128 | likely_benign | 0.2476 | benign | -0.154 | Destabilizing | 0.997 | D | 0.495 | neutral | N | 0.472738151 | None | None | N |
| S/P | 0.3537 | ambiguous | 0.3754 | ambiguous | -0.12 | Destabilizing | 0.998 | D | 0.575 | neutral | None | None | None | None | N |
| S/Q | 0.4863 | ambiguous | 0.5007 | ambiguous | -0.342 | Destabilizing | 0.998 | D | 0.517 | neutral | None | None | None | None | N |
| S/R | 0.5746 | likely_pathogenic | 0.6014 | pathogenic | -0.208 | Destabilizing | 0.997 | D | 0.574 | neutral | N | 0.456616693 | None | None | N |
| S/T | 0.0936 | likely_benign | 0.0992 | benign | -0.237 | Destabilizing | 0.939 | D | 0.473 | neutral | N | 0.455749901 | None | None | N |
| S/V | 0.2614 | likely_benign | 0.3001 | benign | -0.12 | Destabilizing | 0.91 | D | 0.513 | neutral | None | None | None | None | N |
| S/W | 0.3986 | ambiguous | 0.4494 | ambiguous | -0.938 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2425 | likely_benign | 0.2774 | benign | -0.623 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | 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.