Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2125 | 6598;6599;6600 | chr2:178775491;178775490;178775489 | chr2:179640218;179640217;179640216 |
| N2AB | 2125 | 6598;6599;6600 | chr2:178775491;178775490;178775489 | chr2:179640218;179640217;179640216 |
| N2A | 2125 | 6598;6599;6600 | chr2:178775491;178775490;178775489 | chr2:179640218;179640217;179640216 |
| N2B | 2079 | 6460;6461;6462 | chr2:178775491;178775490;178775489 | chr2:179640218;179640217;179640216 |
| Novex-1 | 2079 | 6460;6461;6462 | chr2:178775491;178775490;178775489 | chr2:179640218;179640217;179640216 |
| Novex-2 | 2079 | 6460;6461;6462 | chr2:178775491;178775490;178775489 | chr2:179640218;179640217;179640216 |
| Novex-3 | 2125 | 6598;6599;6600 | chr2:178775491;178775490;178775489 | chr2:179640218;179640217;179640216 |
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/F | rs922207759  |
None | 0.999 | D | 0.501 | 0.393 | 0.534719010399 | gnomAD-4.0.0 | 1.59073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| Y/H | rs2092122812 |
None | 1.0 | N | 0.632 | 0.481 | 0.562692193803 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| Y/H | rs2092122812 |
None | 1.0 | N | 0.632 | 0.481 | 0.562692193803 | gnomAD-4.0.0 | 2.56139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.13765E-05 | 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 | 0.7453 | likely_pathogenic | 0.8185 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| Y/C | 0.3854 | ambiguous | 0.478 | ambiguous | -1.082 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | D | 0.581957386 | None | None | N |
| Y/D | 0.7969 | likely_pathogenic | 0.8834 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.50438009 | None | None | N |
| Y/E | 0.9001 | likely_pathogenic | 0.9388 | pathogenic | -2.54 | Highly Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| Y/F | 0.1143 | likely_benign | 0.1289 | benign | -0.808 | Destabilizing | 0.999 | D | 0.501 | neutral | D | 0.527196453 | None | None | N |
| Y/G | 0.6755 | likely_pathogenic | 0.7567 | pathogenic | -2.909 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| Y/H | 0.3969 | ambiguous | 0.5019 | ambiguous | -1.516 | Destabilizing | 1.0 | D | 0.632 | neutral | N | 0.505568995 | None | None | N |
| Y/I | 0.6943 | likely_pathogenic | 0.7479 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| Y/K | 0.8906 | likely_pathogenic | 0.9219 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| Y/L | 0.6175 | likely_pathogenic | 0.6657 | pathogenic | -1.321 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| Y/M | 0.7897 | likely_pathogenic | 0.8227 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| Y/N | 0.4705 | ambiguous | 0.5766 | pathogenic | -2.382 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.501900417 | None | None | N |
| Y/P | 0.9808 | likely_pathogenic | 0.9878 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| Y/Q | 0.7769 | likely_pathogenic | 0.8412 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| Y/R | 0.7286 | likely_pathogenic | 0.7921 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| Y/S | 0.3614 | ambiguous | 0.4656 | ambiguous | -2.703 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.466441032 | None | None | N |
| Y/T | 0.5768 | likely_pathogenic | 0.672 | pathogenic | -2.425 | Highly Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| Y/V | 0.5826 | likely_pathogenic | 0.6475 | pathogenic | -1.736 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| Y/W | 0.6321 | likely_pathogenic | 0.7003 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.617 | 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.