Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30564 | 91915;91916;91917 | chr2:178550148;178550147;178550146 | chr2:179414875;179414874;179414873 |
| N2AB | 28923 | 86992;86993;86994 | chr2:178550148;178550147;178550146 | chr2:179414875;179414874;179414873 |
| N2A | 27996 | 84211;84212;84213 | chr2:178550148;178550147;178550146 | chr2:179414875;179414874;179414873 |
| N2B | 21499 | 64720;64721;64722 | chr2:178550148;178550147;178550146 | chr2:179414875;179414874;179414873 |
| Novex-1 | 21624 | 65095;65096;65097 | chr2:178550148;178550147;178550146 | chr2:179414875;179414874;179414873 |
| Novex-2 | 21691 | 65296;65297;65298 | chr2:178550148;178550147;178550146 | chr2:179414875;179414874;179414873 |
| 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/V | rs1177595616  |
-0.166 | 0.989 | D | 0.743 | 0.412 | 0.512998934155 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/V | rs1177595616 |
-0.166 | 0.989 | D | 0.743 | 0.412 | 0.512998934155 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-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 | 0.1648 | likely_benign | 0.1993 | benign | -0.318 | Destabilizing | 0.926 | D | 0.537 | neutral | N | 0.507764651 | None | None | N |
| G/C | 0.2537 | likely_benign | 0.2859 | benign | -0.933 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/D | 0.1137 | likely_benign | 0.145 | benign | -0.451 | Destabilizing | 0.983 | D | 0.673 | neutral | None | None | None | None | N |
| G/E | 0.1416 | likely_benign | 0.2076 | benign | -0.595 | Destabilizing | 0.293 | N | 0.523 | neutral | N | 0.489113737 | None | None | N |
| G/F | 0.6248 | likely_pathogenic | 0.7356 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/H | 0.2916 | likely_benign | 0.3461 | ambiguous | -0.463 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/I | 0.4345 | ambiguous | 0.5383 | ambiguous | -0.407 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| G/K | 0.2559 | likely_benign | 0.3419 | ambiguous | -0.836 | Destabilizing | 0.983 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/L | 0.4662 | ambiguous | 0.5659 | pathogenic | -0.407 | Destabilizing | 0.991 | D | 0.749 | deleterious | None | None | None | None | N |
| G/M | 0.4355 | ambiguous | 0.5353 | ambiguous | -0.563 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/N | 0.1419 | likely_benign | 0.1645 | benign | -0.545 | Destabilizing | 0.991 | D | 0.684 | prob.neutral | None | None | None | None | N |
| G/P | 0.9209 | likely_pathogenic | 0.9595 | pathogenic | -0.344 | Destabilizing | 0.996 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2126 | likely_benign | 0.2678 | benign | -0.785 | Destabilizing | 0.983 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/R | 0.2146 | likely_benign | 0.2776 | benign | -0.398 | Destabilizing | 0.989 | D | 0.735 | prob.delet. | N | 0.509815339 | None | None | N |
| G/S | 0.1007 | likely_benign | 0.1087 | benign | -0.724 | Destabilizing | 0.983 | D | 0.659 | neutral | None | None | None | None | N |
| G/T | 0.1829 | likely_benign | 0.2282 | benign | -0.789 | Destabilizing | 0.991 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/V | 0.3327 | likely_benign | 0.4319 | ambiguous | -0.344 | Destabilizing | 0.989 | D | 0.743 | deleterious | D | 0.524907854 | None | None | N |
| G/W | 0.5135 | ambiguous | 0.642 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/Y | 0.4286 | ambiguous | 0.5417 | ambiguous | -0.741 | Destabilizing | 1.0 | D | 0.765 | 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.