Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3404 | 10435;10436;10437 | chr2:178759077;178759076;178759075 | chr2:179623804;179623803;179623802 |
| N2AB | 3404 | 10435;10436;10437 | chr2:178759077;178759076;178759075 | chr2:179623804;179623803;179623802 |
| N2A | 3404 | 10435;10436;10437 | chr2:178759077;178759076;178759075 | chr2:179623804;179623803;179623802 |
| N2B | 3358 | 10297;10298;10299 | chr2:178759077;178759076;178759075 | chr2:179623804;179623803;179623802 |
| Novex-1 | 3358 | 10297;10298;10299 | chr2:178759077;178759076;178759075 | chr2:179623804;179623803;179623802 |
| Novex-2 | 3358 | 10297;10298;10299 | chr2:178759077;178759076;178759075 | chr2:179623804;179623803;179623802 |
| Novex-3 | 3404 | 10435;10436;10437 | chr2:178759077;178759076;178759075 | chr2:179623804;179623803;179623802 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.976 | N | 0.477 | 0.499 | 0.756995558888 | gnomAD-4.0.0 | 1.59076E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85693E-06 | 0 | 0 |
| A/V | rs1471749833  |
-0.323 | 0.852 | N | 0.361 | 0.456 | 0.638558423614 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1471749833 |
-0.323 | 0.852 | N | 0.361 | 0.456 | 0.638558423614 | gnomAD-4.0.0 | 3.18152E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 3.02224E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.583 | likely_pathogenic | 0.5476 | ambiguous | -0.942 | Destabilizing | 0.999 | D | 0.411 | neutral | None | None | None | None | N |
| A/D | 0.3255 | likely_benign | 0.3927 | ambiguous | -1.123 | Destabilizing | 0.976 | D | 0.477 | neutral | N | 0.484784895 | None | None | N |
| A/E | 0.2788 | likely_benign | 0.3148 | benign | -1.194 | Destabilizing | 0.939 | D | 0.402 | neutral | None | None | None | None | N |
| A/F | 0.3682 | ambiguous | 0.3834 | ambiguous | -1.044 | Destabilizing | 0.982 | D | 0.526 | neutral | None | None | None | None | N |
| A/G | 0.177 | likely_benign | 0.1873 | benign | -1.09 | Destabilizing | 0.92 | D | 0.37 | neutral | N | 0.512224768 | None | None | N |
| A/H | 0.5233 | ambiguous | 0.5614 | ambiguous | -1.109 | Destabilizing | 0.999 | D | 0.511 | neutral | None | None | None | None | N |
| A/I | 0.2606 | likely_benign | 0.2567 | benign | -0.481 | Destabilizing | 0.884 | D | 0.403 | neutral | None | None | None | None | N |
| A/K | 0.46 | ambiguous | 0.4971 | ambiguous | -1.146 | Destabilizing | 0.939 | D | 0.396 | neutral | None | None | None | None | N |
| A/L | 0.1911 | likely_benign | 0.191 | benign | -0.481 | Destabilizing | 0.759 | D | 0.414 | neutral | None | None | None | None | N |
| A/M | 0.249 | likely_benign | 0.2478 | benign | -0.394 | Destabilizing | 0.759 | D | 0.409 | neutral | None | None | None | None | N |
| A/N | 0.3048 | likely_benign | 0.345 | ambiguous | -0.817 | Destabilizing | 0.982 | D | 0.469 | neutral | None | None | None | None | N |
| A/P | 0.3959 | ambiguous | 0.4652 | ambiguous | -0.575 | Destabilizing | 0.988 | D | 0.413 | neutral | N | 0.474904965 | None | None | N |
| A/Q | 0.3639 | ambiguous | 0.3857 | ambiguous | -1.06 | Destabilizing | 0.991 | D | 0.449 | neutral | None | None | None | None | N |
| A/R | 0.3621 | ambiguous | 0.385 | ambiguous | -0.704 | Destabilizing | 0.991 | D | 0.427 | neutral | None | None | None | None | N |
| A/S | 0.0924 | likely_benign | 0.0986 | benign | -1.154 | Destabilizing | 0.159 | N | 0.106 | neutral | N | 0.427571866 | None | None | N |
| A/T | 0.0858 | likely_benign | 0.0935 | benign | -1.142 | Destabilizing | 0.134 | N | 0.279 | neutral | N | 0.418172513 | None | None | N |
| A/V | 0.1392 | likely_benign | 0.1288 | benign | -0.575 | Destabilizing | 0.852 | D | 0.361 | neutral | N | 0.479640412 | None | None | N |
| A/W | 0.748 | likely_pathogenic | 0.7609 | pathogenic | -1.28 | Destabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| A/Y | 0.5411 | ambiguous | 0.5681 | pathogenic | -0.928 | Destabilizing | 0.997 | D | 0.531 | 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.