Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21078 | 63457;63458;63459 | chr2:178588175;178588174;178588173 | chr2:179452902;179452901;179452900 |
| N2AB | 19437 | 58534;58535;58536 | chr2:178588175;178588174;178588173 | chr2:179452902;179452901;179452900 |
| N2A | 18510 | 55753;55754;55755 | chr2:178588175;178588174;178588173 | chr2:179452902;179452901;179452900 |
| N2B | 12013 | 36262;36263;36264 | chr2:178588175;178588174;178588173 | chr2:179452902;179452901;179452900 |
| Novex-1 | 12138 | 36637;36638;36639 | chr2:178588175;178588174;178588173 | chr2:179452902;179452901;179452900 |
| Novex-2 | 12205 | 36838;36839;36840 | chr2:178588175;178588174;178588173 | chr2:179452902;179452901;179452900 |
| 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/E | rs1559557769  |
None | 0.822 | N | 0.475 | 0.205 | 0.262175524916 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| K/E | rs1559557769 |
None | 0.822 | N | 0.475 | 0.205 | 0.262175524916 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs1559557769 |
None | 0.822 | N | 0.475 | 0.205 | 0.262175524916 | gnomAD-4.0.0 | 4.06014E-06 | None | None | None | None | N | None | 0 | 6.15688E-05 | None | 0 | 0 | None | 0 | 0 | 3.61492E-06 | 0 | 0 |
| K/R | rs879227779 |
None | 0.014 | N | 0.2 | 0.086 | 0.0920862733494 | gnomAD-4.0.0 | 6.90122E-07 | None | None | None | None | N | None | 3.00445E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs879227779 |
-0.742 | 0.942 | N | 0.669 | 0.286 | None | gnomAD-2.1.1 | 6.9E-05 | None | None | None | None | N | None | 0 | 4.28743E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.17E-05 | 0 |
| K/T | rs879227779 |
-0.742 | 0.942 | N | 0.669 | 0.286 | None | gnomAD-3.1.2 | 1.11773E-04 | None | None | None | None | N | None | 2.41E-05 | 7.8637E-04 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| K/T | rs879227779 |
-0.742 | 0.942 | N | 0.669 | 0.286 | None | gnomAD-4.0.0 | 2.37335E-05 | None | None | None | None | N | None | 1.3379E-05 | 4.52823E-04 | None | 0 | 0 | None | 0 | 0 | 8.54241E-06 | 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 | 0.3751 | ambiguous | 0.3923 | ambiguous | -0.224 | Destabilizing | 0.86 | D | 0.53 | neutral | None | None | None | None | N |
| K/C | 0.6814 | likely_pathogenic | 0.6881 | pathogenic | -0.15 | Destabilizing | 0.998 | D | 0.838 | deleterious | None | None | None | None | N |
| K/D | 0.7358 | likely_pathogenic | 0.7589 | pathogenic | -0.2 | Destabilizing | 0.956 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/E | 0.2999 | likely_benign | 0.3211 | benign | -0.148 | Destabilizing | 0.822 | D | 0.475 | neutral | N | 0.507645733 | None | None | N |
| K/F | 0.87 | likely_pathogenic | 0.8753 | pathogenic | -0.142 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
| K/G | 0.4475 | ambiguous | 0.4753 | ambiguous | -0.533 | Destabilizing | 0.956 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/H | 0.4207 | ambiguous | 0.412 | ambiguous | -0.974 | Destabilizing | 0.994 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/I | 0.4854 | ambiguous | 0.5202 | ambiguous | 0.545 | Stabilizing | 0.971 | D | 0.827 | deleterious | N | 0.503893991 | None | None | N |
| K/L | 0.4674 | ambiguous | 0.4812 | ambiguous | 0.545 | Stabilizing | 0.956 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/M | 0.3525 | ambiguous | 0.3717 | ambiguous | 0.514 | Stabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/N | 0.5607 | ambiguous | 0.614 | pathogenic | -0.084 | Destabilizing | 0.942 | D | 0.673 | neutral | N | 0.466315902 | None | None | N |
| K/P | 0.6425 | likely_pathogenic | 0.6366 | pathogenic | 0.319 | Stabilizing | 0.993 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1741 | likely_benign | 0.1823 | benign | -0.243 | Destabilizing | 0.942 | D | 0.677 | prob.neutral | N | 0.480002838 | None | None | N |
| K/R | 0.0702 | likely_benign | 0.075 | benign | -0.39 | Destabilizing | 0.014 | N | 0.2 | neutral | N | 0.489966836 | None | None | N |
| K/S | 0.4414 | ambiguous | 0.4816 | ambiguous | -0.601 | Destabilizing | 0.86 | D | 0.575 | neutral | None | None | None | None | N |
| K/T | 0.2662 | likely_benign | 0.2828 | benign | -0.371 | Destabilizing | 0.942 | D | 0.669 | neutral | N | 0.473201982 | None | None | N |
| K/V | 0.44 | ambiguous | 0.4638 | ambiguous | 0.319 | Stabilizing | 0.978 | D | 0.757 | deleterious | None | None | None | None | N |
| K/W | 0.8212 | likely_pathogenic | 0.8218 | pathogenic | -0.084 | Destabilizing | 0.998 | D | 0.833 | deleterious | None | None | None | None | N |
| K/Y | 0.7437 | likely_pathogenic | 0.7495 | pathogenic | 0.223 | Stabilizing | 0.993 | D | 0.797 | 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.