Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3299 | 10120;10121;10122 | chr2:178764620;178764619;178764618 | chr2:179629347;179629346;179629345 |
| N2AB | 3299 | 10120;10121;10122 | chr2:178764620;178764619;178764618 | chr2:179629347;179629346;179629345 |
| N2A | 3299 | 10120;10121;10122 | chr2:178764620;178764619;178764618 | chr2:179629347;179629346;179629345 |
| N2B | 3253 | 9982;9983;9984 | chr2:178764620;178764619;178764618 | chr2:179629347;179629346;179629345 |
| Novex-1 | 3253 | 9982;9983;9984 | chr2:178764620;178764619;178764618 | chr2:179629347;179629346;179629345 |
| Novex-2 | 3253 | 9982;9983;9984 | chr2:178764620;178764619;178764618 | chr2:179629347;179629346;179629345 |
| Novex-3 | 3299 | 10120;10121;10122 | chr2:178764620;178764619;178764618 | chr2:179629347;179629346;179629345 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs2090024625  |
None | 1.0 | N | 0.599 | 0.585 | 0.739517929183 | gnomAD-4.0.0 | 2.05222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51965E-05 | None | 0 | 0 | 8.99297E-07 | 0 | 1.65579E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7871 | likely_pathogenic | 0.842 | pathogenic | -1.652 | Destabilizing | 0.999 | D | 0.465 | neutral | None | None | None | None | N |
| I/C | 0.9821 | likely_pathogenic | 0.9825 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| I/D | 0.9862 | likely_pathogenic | 0.9886 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| I/E | 0.951 | likely_pathogenic | 0.9549 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| I/F | 0.6304 | likely_pathogenic | 0.6308 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.504463508 | None | None | N |
| I/G | 0.9616 | likely_pathogenic | 0.9703 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| I/H | 0.9688 | likely_pathogenic | 0.9693 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| I/K | 0.9298 | likely_pathogenic | 0.9405 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| I/L | 0.2575 | likely_benign | 0.2849 | benign | -0.812 | Destabilizing | 0.993 | D | 0.271 | neutral | N | 0.490438205 | None | None | N |
| I/M | 0.2506 | likely_benign | 0.2733 | benign | -0.573 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.497640193 | None | None | N |
| I/N | 0.9087 | likely_pathogenic | 0.9222 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.504477537 | None | None | N |
| I/P | 0.9474 | likely_pathogenic | 0.9531 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| I/Q | 0.9213 | likely_pathogenic | 0.9299 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| I/R | 0.8748 | likely_pathogenic | 0.8936 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| I/S | 0.8388 | likely_pathogenic | 0.87 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.492228835 | None | None | N |
| I/T | 0.6267 | likely_pathogenic | 0.6679 | pathogenic | -1.482 | Destabilizing | 1.0 | D | 0.599 | neutral | N | 0.50369859 | None | None | N |
| I/V | 0.3405 | ambiguous | 0.3751 | ambiguous | -1.061 | Destabilizing | 0.993 | D | 0.259 | neutral | N | 0.508564811 | None | None | N |
| I/W | 0.9433 | likely_pathogenic | 0.9418 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| I/Y | 0.9314 | likely_pathogenic | 0.9274 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.693 | prob.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.