Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2219 | 6880;6881;6882 | chr2:178775056;178775055;178775054 | chr2:179639783;179639782;179639781 |
| N2AB | 2219 | 6880;6881;6882 | chr2:178775056;178775055;178775054 | chr2:179639783;179639782;179639781 |
| N2A | 2219 | 6880;6881;6882 | chr2:178775056;178775055;178775054 | chr2:179639783;179639782;179639781 |
| N2B | 2173 | 6742;6743;6744 | chr2:178775056;178775055;178775054 | chr2:179639783;179639782;179639781 |
| Novex-1 | 2173 | 6742;6743;6744 | chr2:178775056;178775055;178775054 | chr2:179639783;179639782;179639781 |
| Novex-2 | 2173 | 6742;6743;6744 | chr2:178775056;178775055;178775054 | chr2:179639783;179639782;179639781 |
| Novex-3 | 2219 | 6880;6881;6882 | chr2:178775056;178775055;178775054 | chr2:179639783;179639782;179639781 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs1292302676  |
-0.618 | 1.0 | D | 0.712 | 0.453 | 0.371718192555 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs1292302676 |
-0.618 | 1.0 | D | 0.712 | 0.453 | 0.371718192555 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs1292302676 |
-0.618 | 1.0 | D | 0.712 | 0.453 | 0.371718192555 | gnomAD-4.0.0 | 3.84199E-06 | None | None | None | None | N | None | 3.38192E-05 | 1.69463E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1482793298 |
-0.407 | 0.999 | N | 0.54 | 0.341 | 0.340510301474 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs1482793298 |
-0.407 | 0.999 | N | 0.54 | 0.341 | 0.340510301474 | gnomAD-4.0.0 | 1.59078E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8267 | likely_pathogenic | 0.8425 | pathogenic | -0.649 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
| K/C | 0.9255 | likely_pathogenic | 0.9291 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/D | 0.8755 | likely_pathogenic | 0.8875 | pathogenic | 0.146 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| K/E | 0.6336 | likely_pathogenic | 0.6685 | pathogenic | 0.263 | Stabilizing | 0.999 | D | 0.525 | neutral | D | 0.67836075 | None | None | N |
| K/F | 0.9538 | likely_pathogenic | 0.9583 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| K/G | 0.86 | likely_pathogenic | 0.872 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| K/H | 0.5637 | ambiguous | 0.5706 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| K/I | 0.7377 | likely_pathogenic | 0.77 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.684083261 | None | None | N |
| K/L | 0.752 | likely_pathogenic | 0.7784 | pathogenic | 0.239 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| K/M | 0.6328 | likely_pathogenic | 0.6676 | pathogenic | 0.058 | Stabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| K/N | 0.7411 | likely_pathogenic | 0.7672 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.574181807 | None | None | N |
| K/P | 0.9617 | likely_pathogenic | 0.9643 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| K/Q | 0.459 | ambiguous | 0.4841 | ambiguous | -0.385 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.620050483 | None | None | N |
| K/R | 0.1443 | likely_benign | 0.1473 | benign | -0.413 | Destabilizing | 0.999 | D | 0.54 | neutral | N | 0.502033505 | None | None | N |
| K/S | 0.8232 | likely_pathogenic | 0.8385 | pathogenic | -1.062 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| K/T | 0.5096 | ambiguous | 0.5464 | ambiguous | -0.73 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.58967701 | None | None | N |
| K/V | 0.7442 | likely_pathogenic | 0.7659 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/W | 0.9495 | likely_pathogenic | 0.9537 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8794 | likely_pathogenic | 0.8912 | pathogenic | None | Stabilizing | 1.0 | D | 0.691 | 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.