Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30695 | 92308;92309;92310 | chr2:178549639;178549638;178549637 | chr2:179414366;179414365;179414364 |
| N2AB | 29054 | 87385;87386;87387 | chr2:178549639;178549638;178549637 | chr2:179414366;179414365;179414364 |
| N2A | 28127 | 84604;84605;84606 | chr2:178549639;178549638;178549637 | chr2:179414366;179414365;179414364 |
| N2B | 21630 | 65113;65114;65115 | chr2:178549639;178549638;178549637 | chr2:179414366;179414365;179414364 |
| Novex-1 | 21755 | 65488;65489;65490 | chr2:178549639;178549638;178549637 | chr2:179414366;179414365;179414364 |
| Novex-2 | 21822 | 65689;65690;65691 | chr2:178549639;178549638;178549637 | chr2:179414366;179414365;179414364 |
| 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/P | rs768267695  |
-0.424 | 1.0 | N | 0.797 | 0.52 | 0.423119698836 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/P | rs768267695 |
-0.424 | 1.0 | N | 0.797 | 0.52 | 0.423119698836 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8585E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0994 | likely_benign | 0.1194 | benign | -0.73 | Destabilizing | 0.997 | D | 0.654 | neutral | N | 0.475496029 | None | None | N |
| S/C | 0.0759 | likely_benign | 0.0846 | benign | -0.652 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.471786858 | None | None | N |
| S/D | 0.8684 | likely_pathogenic | 0.8856 | pathogenic | -1.494 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| S/E | 0.8349 | likely_pathogenic | 0.8439 | pathogenic | -1.308 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| S/F | 0.2995 | likely_benign | 0.3409 | ambiguous | -0.434 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.489158759 | None | None | N |
| S/G | 0.1518 | likely_benign | 0.1868 | benign | -1.132 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| S/H | 0.5007 | ambiguous | 0.5103 | ambiguous | -1.514 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/I | 0.3259 | likely_benign | 0.3941 | ambiguous | 0.287 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| S/K | 0.825 | likely_pathogenic | 0.8581 | pathogenic | -0.517 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| S/L | 0.138 | likely_benign | 0.1606 | benign | 0.287 | Stabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| S/M | 0.2183 | likely_benign | 0.2239 | benign | 0.139 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/N | 0.3418 | ambiguous | 0.3797 | ambiguous | -1.165 | Destabilizing | 0.999 | D | 0.66 | neutral | None | None | None | None | N |
| S/P | 0.9895 | likely_pathogenic | 0.9921 | pathogenic | -0.016 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.507995368 | None | None | N |
| S/Q | 0.6193 | likely_pathogenic | 0.625 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| S/R | 0.6628 | likely_pathogenic | 0.7189 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| S/T | 0.1194 | likely_benign | 0.1402 | benign | -0.807 | Destabilizing | 0.999 | D | 0.64 | neutral | N | 0.479421768 | None | None | N |
| S/V | 0.2949 | likely_benign | 0.3438 | ambiguous | -0.016 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| S/W | 0.4869 | ambiguous | 0.5082 | ambiguous | -0.739 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| S/Y | 0.2811 | likely_benign | 0.2964 | benign | -0.293 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.517921441 | 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.