Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29807 | 89644;89645;89646 | chr2:178553586;178553585;178553584 | chr2:179418313;179418312;179418311 |
| N2AB | 28166 | 84721;84722;84723 | chr2:178553586;178553585;178553584 | chr2:179418313;179418312;179418311 |
| N2A | 27239 | 81940;81941;81942 | chr2:178553586;178553585;178553584 | chr2:179418313;179418312;179418311 |
| N2B | 20742 | 62449;62450;62451 | chr2:178553586;178553585;178553584 | chr2:179418313;179418312;179418311 |
| Novex-1 | 20867 | 62824;62825;62826 | chr2:178553586;178553585;178553584 | chr2:179418313;179418312;179418311 |
| Novex-2 | 20934 | 63025;63026;63027 | chr2:178553586;178553585;178553584 | chr2:179418313;179418312;179418311 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 0.997 | N | 0.618 | 0.31 | 0.454987352986 | gnomAD-4.0.0 | 2.05259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6984E-06 | 0 | 0 |
| Y/S | None | None | 0.966 | N | 0.592 | 0.323 | 0.522182809586 | gnomAD-4.0.0 | 6.84196E-07 | None | None | None | None | N | None | 2.98704E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.3944 | ambiguous | 0.4378 | ambiguous | -3.055 | Highly Destabilizing | 0.915 | D | 0.541 | neutral | None | None | None | None | N |
| Y/C | 0.126 | likely_benign | 0.1225 | benign | -1.378 | Destabilizing | 0.997 | D | 0.618 | neutral | N | 0.497239525 | None | None | N |
| Y/D | 0.3379 | likely_benign | 0.3492 | ambiguous | -3.053 | Highly Destabilizing | 0.989 | D | 0.64 | neutral | N | 0.469514206 | None | None | N |
| Y/E | 0.5809 | likely_pathogenic | 0.6078 | pathogenic | -2.867 | Highly Destabilizing | 0.991 | D | 0.605 | neutral | None | None | None | None | N |
| Y/F | 0.0654 | likely_benign | 0.0758 | benign | -1.109 | Destabilizing | 0.005 | N | 0.265 | neutral | N | 0.412852847 | None | None | N |
| Y/G | 0.4738 | ambiguous | 0.5039 | ambiguous | -3.434 | Highly Destabilizing | 0.974 | D | 0.611 | neutral | None | None | None | None | N |
| Y/H | 0.1098 | likely_benign | 0.1101 | benign | -1.902 | Destabilizing | 0.989 | D | 0.599 | neutral | N | 0.453179316 | None | None | N |
| Y/I | 0.297 | likely_benign | 0.335 | benign | -1.795 | Destabilizing | 0.728 | D | 0.512 | neutral | None | None | None | None | N |
| Y/K | 0.4799 | ambiguous | 0.5143 | ambiguous | -1.893 | Destabilizing | 0.991 | D | 0.606 | neutral | None | None | None | None | N |
| Y/L | 0.3933 | ambiguous | 0.4092 | ambiguous | -1.795 | Destabilizing | 0.016 | N | 0.355 | neutral | None | None | None | None | N |
| Y/M | 0.5226 | ambiguous | 0.5683 | pathogenic | -1.397 | Destabilizing | 0.949 | D | 0.587 | neutral | None | None | None | None | N |
| Y/N | 0.1682 | likely_benign | 0.1794 | benign | -2.54 | Highly Destabilizing | 0.989 | D | 0.617 | neutral | N | 0.447848068 | None | None | N |
| Y/P | 0.9661 | likely_pathogenic | 0.9679 | pathogenic | -2.228 | Highly Destabilizing | 0.991 | D | 0.637 | neutral | None | None | None | None | N |
| Y/Q | 0.3636 | ambiguous | 0.3976 | ambiguous | -2.37 | Highly Destabilizing | 0.991 | D | 0.586 | neutral | None | None | None | None | N |
| Y/R | 0.304 | likely_benign | 0.3248 | benign | -1.566 | Destabilizing | 0.991 | D | 0.615 | neutral | None | None | None | None | N |
| Y/S | 0.152 | likely_benign | 0.1766 | benign | -2.916 | Highly Destabilizing | 0.966 | D | 0.592 | neutral | N | 0.434745484 | None | None | N |
| Y/T | 0.307 | likely_benign | 0.3548 | ambiguous | -2.626 | Highly Destabilizing | 0.915 | D | 0.579 | neutral | None | None | None | None | N |
| Y/V | 0.2499 | likely_benign | 0.2827 | benign | -2.228 | Highly Destabilizing | 0.728 | D | 0.532 | neutral | None | None | None | None | N |
| Y/W | 0.3813 | ambiguous | 0.3861 | ambiguous | -0.398 | Destabilizing | 0.991 | D | 0.604 | 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.