Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13731 | 41416;41417;41418 | chr2:178636536;178636535;178636534 | chr2:179501263;179501262;179501261 |
| N2AB | 12090 | 36493;36494;36495 | chr2:178636536;178636535;178636534 | chr2:179501263;179501262;179501261 |
| N2A | 11163 | 33712;33713;33714 | chr2:178636536;178636535;178636534 | chr2:179501263;179501262;179501261 |
| N2B | 4666 | 14221;14222;14223 | chr2:178636536;178636535;178636534 | chr2:179501263;179501262;179501261 |
| Novex-1 | 4791 | 14596;14597;14598 | chr2:178636536;178636535;178636534 | chr2:179501263;179501262;179501261 |
| Novex-2 | 4858 | 14797;14798;14799 | chr2:178636536;178636535;178636534 | chr2:179501263;179501262;179501261 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs559968058  |
-0.473 | 1.0 | N | 0.703 | 0.265 | 0.184867976434 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/N | rs559968058 |
-0.473 | 1.0 | N | 0.703 | 0.265 | 0.184867976434 | 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 |
| K/N | rs559968058 |
-0.473 | 1.0 | N | 0.703 | 0.265 | 0.184867976434 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47106E-05 | 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 | 0.9574 | likely_pathogenic | 0.9807 | pathogenic | -0.49 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| K/C | 0.9893 | likely_pathogenic | 0.995 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/D | 0.9883 | likely_pathogenic | 0.9957 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/E | 0.9249 | likely_pathogenic | 0.9752 | pathogenic | -0.109 | Destabilizing | 0.999 | D | 0.469 | neutral | N | 0.475171451 | None | None | N |
| K/F | 0.9944 | likely_pathogenic | 0.9973 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/G | 0.971 | likely_pathogenic | 0.9873 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| K/H | 0.8756 | likely_pathogenic | 0.9264 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| K/I | 0.9534 | likely_pathogenic | 0.9765 | pathogenic | 0.504 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| K/L | 0.9275 | likely_pathogenic | 0.9597 | pathogenic | 0.504 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| K/M | 0.9298 | likely_pathogenic | 0.9617 | pathogenic | 0.444 | Stabilizing | 1.0 | D | 0.661 | neutral | N | 0.494655323 | None | None | N |
| K/N | 0.9709 | likely_pathogenic | 0.9863 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.44706826 | None | None | N |
| K/P | 0.985 | likely_pathogenic | 0.992 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| K/Q | 0.7403 | likely_pathogenic | 0.871 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.675 | neutral | N | 0.47619935 | None | None | N |
| K/R | 0.1578 | likely_benign | 0.2323 | benign | -0.705 | Destabilizing | 0.999 | D | 0.486 | neutral | N | 0.437837506 | None | None | N |
| K/S | 0.9693 | likely_pathogenic | 0.9857 | pathogenic | -1.03 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| K/T | 0.889 | likely_pathogenic | 0.9421 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.481666111 | None | None | N |
| K/V | 0.9319 | likely_pathogenic | 0.9632 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| K/W | 0.9919 | likely_pathogenic | 0.997 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| K/Y | 0.9807 | likely_pathogenic | 0.9896 | pathogenic | 0.23 | Stabilizing | 1.0 | D | 0.663 | 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.