Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16709 | 50350;50351;50352 | chr2:178612400;178612399;178612398 | chr2:179477127;179477126;179477125 |
| N2AB | 15068 | 45427;45428;45429 | chr2:178612400;178612399;178612398 | chr2:179477127;179477126;179477125 |
| N2A | 14141 | 42646;42647;42648 | chr2:178612400;178612399;178612398 | chr2:179477127;179477126;179477125 |
| N2B | 7644 | 23155;23156;23157 | chr2:178612400;178612399;178612398 | chr2:179477127;179477126;179477125 |
| Novex-1 | 7769 | 23530;23531;23532 | chr2:178612400;178612399;178612398 | chr2:179477127;179477126;179477125 |
| Novex-2 | 7836 | 23731;23732;23733 | chr2:178612400;178612399;178612398 | chr2:179477127;179477126;179477125 |
| 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 | rs1244376906  |
-0.138 | 0.999 | N | 0.701 | 0.241 | 0.165133752707 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| K/N | rs1244376906 |
-0.138 | 0.999 | N | 0.701 | 0.241 | 0.165133752707 | 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 | rs1244376906 |
-0.138 | 0.999 | N | 0.701 | 0.241 | 0.165133752707 | gnomAD-4.0.0 | 6.58328E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47223E-05 | 0 | 0 |
| K/Q | rs755961446 |
-0.037 | 0.999 | N | 0.697 | 0.355 | 0.165133752707 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| K/Q | rs755961446 |
-0.037 | 0.999 | N | 0.697 | 0.355 | 0.165133752707 | gnomAD-4.0.0 | 7.96952E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.1662E-05 | 0 |
| K/R | rs2056499137 |
None | 0.998 | N | 0.591 | 0.191 | 0.194818534648 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| K/R | rs2056499137 |
None | 0.998 | N | 0.591 | 0.191 | 0.194818534648 | gnomAD-4.0.0 | 2.56639E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.5704E-05 | 0 | 0 | 0 | 2.8516E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8263 | likely_pathogenic | 0.7952 | pathogenic | -0.401 | Destabilizing | 0.996 | D | 0.574 | neutral | None | None | None | None | N |
| K/C | 0.9187 | likely_pathogenic | 0.9103 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| K/D | 0.9656 | likely_pathogenic | 0.9535 | pathogenic | 0.147 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| K/E | 0.787 | likely_pathogenic | 0.7586 | pathogenic | 0.244 | Stabilizing | 0.998 | D | 0.569 | neutral | N | 0.396750965 | None | None | N |
| K/F | 0.9648 | likely_pathogenic | 0.965 | pathogenic | -0.139 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| K/G | 0.9313 | likely_pathogenic | 0.9009 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/H | 0.5858 | likely_pathogenic | 0.5348 | ambiguous | -0.912 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/I | 0.7693 | likely_pathogenic | 0.8031 | pathogenic | 0.439 | Stabilizing | 0.784 | D | 0.528 | neutral | None | None | None | None | N |
| K/L | 0.7932 | likely_pathogenic | 0.8107 | pathogenic | 0.439 | Stabilizing | 0.983 | D | 0.572 | neutral | None | None | None | None | N |
| K/M | 0.713 | likely_pathogenic | 0.7149 | pathogenic | 0.141 | Stabilizing | 1.0 | D | 0.752 | deleterious | N | 0.48254145 | None | None | N |
| K/N | 0.887 | likely_pathogenic | 0.863 | pathogenic | -0.207 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | N | 0.467198701 | None | None | N |
| K/P | 0.9923 | likely_pathogenic | 0.9918 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| K/Q | 0.4228 | ambiguous | 0.3775 | ambiguous | -0.247 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | N | 0.457869025 | None | None | N |
| K/R | 0.1137 | likely_benign | 0.1145 | benign | -0.353 | Destabilizing | 0.998 | D | 0.591 | neutral | N | 0.467209686 | None | None | N |
| K/S | 0.8528 | likely_pathogenic | 0.8063 | pathogenic | -0.833 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| K/T | 0.5545 | ambiguous | 0.5134 | ambiguous | -0.536 | Destabilizing | 0.998 | D | 0.731 | prob.delet. | N | 0.424440933 | None | None | N |
| K/V | 0.6733 | likely_pathogenic | 0.6927 | pathogenic | 0.189 | Stabilizing | 0.983 | D | 0.571 | neutral | None | None | None | None | N |
| K/W | 0.9682 | likely_pathogenic | 0.9658 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| K/Y | 0.917 | likely_pathogenic | 0.9112 | pathogenic | 0.229 | Stabilizing | 1.0 | D | 0.767 | deleterious | 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.