Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18526 | 55801;55802;55803 | chr2:178601421;178601420;178601419 | chr2:179466148;179466147;179466146 |
| N2AB | 16885 | 50878;50879;50880 | chr2:178601421;178601420;178601419 | chr2:179466148;179466147;179466146 |
| N2A | 15958 | 48097;48098;48099 | chr2:178601421;178601420;178601419 | chr2:179466148;179466147;179466146 |
| N2B | 9461 | 28606;28607;28608 | chr2:178601421;178601420;178601419 | chr2:179466148;179466147;179466146 |
| Novex-1 | 9586 | 28981;28982;28983 | chr2:178601421;178601420;178601419 | chr2:179466148;179466147;179466146 |
| Novex-2 | 9653 | 29182;29183;29184 | chr2:178601421;178601420;178601419 | chr2:179466148;179466147;179466146 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs771337220  |
-0.862 | 1.0 | N | 0.731 | 0.687 | 0.679401673515 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| W/R | rs771337220 |
-0.862 | 1.0 | N | 0.731 | 0.687 | 0.679401673515 | gnomAD-4.0.0 | 6.37273E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58438E-06 | 0 | 3.02792E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9936 | likely_pathogenic | 0.9964 | pathogenic | -3.119 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/C | 0.9969 | likely_pathogenic | 0.9982 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.674 | neutral | N | 0.510770526 | None | None | N |
| W/D | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| W/F | 0.5995 | likely_pathogenic | 0.6171 | pathogenic | -2.019 | Highly Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| W/G | 0.9869 | likely_pathogenic | 0.9914 | pathogenic | -3.308 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | D | 0.524733725 | None | None | N |
| W/H | 0.9948 | likely_pathogenic | 0.9964 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| W/I | 0.9914 | likely_pathogenic | 0.9954 | pathogenic | -2.436 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/L | 0.9697 | likely_pathogenic | 0.9827 | pathogenic | -2.436 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.512616951 | None | None | N |
| W/M | 0.9924 | likely_pathogenic | 0.9959 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| W/N | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/P | 0.9953 | likely_pathogenic | 0.9974 | pathogenic | -2.679 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.817 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.513884398 | None | None | N |
| W/S | 0.9894 | likely_pathogenic | 0.9934 | pathogenic | -2.282 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.500500177 | None | None | N |
| W/T | 0.9956 | likely_pathogenic | 0.9977 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| W/V | 0.9877 | likely_pathogenic | 0.9934 | pathogenic | -2.679 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/Y | 0.7634 | likely_pathogenic | 0.7809 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.593 | 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.