Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29691 | 89296;89297;89298 | chr2:178554040;178554039;178554038 | chr2:179418767;179418766;179418765 |
| N2AB | 28050 | 84373;84374;84375 | chr2:178554040;178554039;178554038 | chr2:179418767;179418766;179418765 |
| N2A | 27123 | 81592;81593;81594 | chr2:178554040;178554039;178554038 | chr2:179418767;179418766;179418765 |
| N2B | 20626 | 62101;62102;62103 | chr2:178554040;178554039;178554038 | chr2:179418767;179418766;179418765 |
| Novex-1 | 20751 | 62476;62477;62478 | chr2:178554040;178554039;178554038 | chr2:179418767;179418766;179418765 |
| Novex-2 | 20818 | 62677;62678;62679 | chr2:178554040;178554039;178554038 | chr2:179418767;179418766;179418765 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs794729525  |
None | 1.0 | N | 0.669 | 0.371 | 0.390842690916 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs794729525 |
None | 1.0 | N | 0.669 | 0.371 | 0.390842690916 | gnomAD-4.0.0 | 1.1155E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52567E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1616 | likely_benign | 0.1701 | benign | -0.797 | Destabilizing | 0.999 | D | 0.504 | neutral | N | 0.493084345 | None | None | N |
| T/C | 0.3804 | ambiguous | 0.3565 | ambiguous | -0.496 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/D | 0.8021 | likely_pathogenic | 0.83 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/E | 0.6897 | likely_pathogenic | 0.7193 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/F | 0.6215 | likely_pathogenic | 0.6575 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/G | 0.4182 | ambiguous | 0.4295 | ambiguous | -1.181 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/H | 0.5733 | likely_pathogenic | 0.6119 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| T/I | 0.3001 | likely_benign | 0.3212 | benign | 0.188 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.50684696 | None | None | N |
| T/K | 0.4743 | ambiguous | 0.5122 | ambiguous | -0.277 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| T/L | 0.0948 | likely_benign | 0.0973 | benign | 0.188 | Stabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| T/M | 0.111 | likely_benign | 0.1187 | benign | 0.045 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/N | 0.2306 | likely_benign | 0.2445 | benign | -0.807 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.517673512 | None | None | N |
| T/P | 0.2693 | likely_benign | 0.2979 | benign | -0.108 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.478018283 | None | None | N |
| T/Q | 0.4422 | ambiguous | 0.463 | ambiguous | -0.628 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| T/R | 0.4037 | ambiguous | 0.4403 | ambiguous | -0.391 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/S | 0.216 | likely_benign | 0.227 | benign | -1.106 | Destabilizing | 0.999 | D | 0.477 | neutral | N | 0.49033564 | None | None | N |
| T/V | 0.2093 | likely_benign | 0.2092 | benign | -0.108 | Destabilizing | 0.999 | D | 0.524 | neutral | None | None | None | None | N |
| T/W | 0.8864 | likely_pathogenic | 0.9066 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/Y | 0.6461 | likely_pathogenic | 0.6636 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.773 | 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.