Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30561 | 91906;91907;91908 | chr2:178550157;178550156;178550155 | chr2:179414884;179414883;179414882 |
| N2AB | 28920 | 86983;86984;86985 | chr2:178550157;178550156;178550155 | chr2:179414884;179414883;179414882 |
| N2A | 27993 | 84202;84203;84204 | chr2:178550157;178550156;178550155 | chr2:179414884;179414883;179414882 |
| N2B | 21496 | 64711;64712;64713 | chr2:178550157;178550156;178550155 | chr2:179414884;179414883;179414882 |
| Novex-1 | 21621 | 65086;65087;65088 | chr2:178550157;178550156;178550155 | chr2:179414884;179414883;179414882 |
| Novex-2 | 21688 | 65287;65288;65289 | chr2:178550157;178550156;178550155 | chr2:179414884;179414883;179414882 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1410003060  |
-1.594 | 0.002 | N | 0.207 | 0.177 | 0.328222422547 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| F/L | rs1410003060 |
-1.594 | 0.002 | N | 0.207 | 0.177 | 0.328222422547 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs1410003060 |
-1.594 | 0.002 | N | 0.207 | 0.177 | 0.328222422547 | gnomAD-4.0.0 | 3.0457E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61493E-06 | 0 | 0 |
| F/Y | None | None | 0.002 | N | 0.182 | 0.113 | 0.258779203287 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85845E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.5557 | ambiguous | 0.5379 | ambiguous | -2.568 | Highly Destabilizing | 0.617 | D | 0.549 | neutral | None | None | None | None | N |
| F/C | 0.2437 | likely_benign | 0.2252 | benign | -1.396 | Destabilizing | 0.99 | D | 0.584 | neutral | N | 0.486486255 | None | None | N |
| F/D | 0.8247 | likely_pathogenic | 0.8163 | pathogenic | -1.652 | Destabilizing | 0.972 | D | 0.618 | neutral | None | None | None | None | N |
| F/E | 0.7105 | likely_pathogenic | 0.7039 | pathogenic | -1.561 | Destabilizing | 0.92 | D | 0.607 | neutral | None | None | None | None | N |
| F/G | 0.7135 | likely_pathogenic | 0.7 | pathogenic | -2.907 | Highly Destabilizing | 0.92 | D | 0.608 | neutral | None | None | None | None | N |
| F/H | 0.3273 | likely_benign | 0.3166 | benign | -1.117 | Destabilizing | 0.85 | D | 0.555 | neutral | None | None | None | None | N |
| F/I | 0.2468 | likely_benign | 0.2265 | benign | -1.526 | Destabilizing | 0.379 | N | 0.463 | neutral | N | 0.498519243 | None | None | N |
| F/K | 0.5527 | ambiguous | 0.5342 | ambiguous | -1.314 | Destabilizing | 0.92 | D | 0.611 | neutral | None | None | None | None | N |
| F/L | 0.6082 | likely_pathogenic | 0.5824 | pathogenic | -1.526 | Destabilizing | 0.002 | N | 0.207 | neutral | N | 0.419402312 | None | None | N |
| F/M | 0.359 | ambiguous | 0.3338 | benign | -1.233 | Destabilizing | 0.85 | D | 0.505 | neutral | None | None | None | None | N |
| F/N | 0.4973 | ambiguous | 0.471 | ambiguous | -1.333 | Destabilizing | 0.92 | D | 0.621 | neutral | None | None | None | None | N |
| F/P | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.87 | Destabilizing | 0.972 | D | 0.62 | neutral | None | None | None | None | N |
| F/Q | 0.4936 | ambiguous | 0.4731 | ambiguous | -1.504 | Destabilizing | 0.92 | D | 0.633 | neutral | None | None | None | None | N |
| F/R | 0.4717 | ambiguous | 0.4547 | ambiguous | -0.564 | Destabilizing | 0.92 | D | 0.617 | neutral | None | None | None | None | N |
| F/S | 0.3426 | ambiguous | 0.3345 | benign | -2.145 | Highly Destabilizing | 0.549 | D | 0.589 | neutral | N | 0.423541482 | None | None | N |
| F/T | 0.4083 | ambiguous | 0.3871 | ambiguous | -1.964 | Destabilizing | 0.766 | D | 0.593 | neutral | None | None | None | None | N |
| F/V | 0.2503 | likely_benign | 0.2354 | benign | -1.87 | Destabilizing | 0.379 | N | 0.505 | neutral | N | 0.498519243 | None | None | N |
| F/W | 0.3458 | ambiguous | 0.3559 | ambiguous | -0.525 | Destabilizing | 0.92 | D | 0.505 | neutral | None | None | None | None | N |
| F/Y | 0.0994 | likely_benign | 0.0953 | benign | -0.749 | Destabilizing | 0.002 | N | 0.182 | neutral | N | 0.403971499 | 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.