Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20037 | 60334;60335;60336 | chr2:178591710;178591709;178591708 | chr2:179456437;179456436;179456435 |
| N2AB | 18396 | 55411;55412;55413 | chr2:178591710;178591709;178591708 | chr2:179456437;179456436;179456435 |
| N2A | 17469 | 52630;52631;52632 | chr2:178591710;178591709;178591708 | chr2:179456437;179456436;179456435 |
| N2B | 10972 | 33139;33140;33141 | chr2:178591710;178591709;178591708 | chr2:179456437;179456436;179456435 |
| Novex-1 | 11097 | 33514;33515;33516 | chr2:178591710;178591709;178591708 | chr2:179456437;179456436;179456435 |
| Novex-2 | 11164 | 33715;33716;33717 | chr2:178591710;178591709;178591708 | chr2:179456437;179456436;179456435 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs749438176  |
-1.159 | 1.0 | N | 0.783 | 0.42 | 0.686938700362 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.14509E-04 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs749438176 |
-1.159 | 1.0 | N | 0.783 | 0.42 | 0.686938700362 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.82977E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs749438176 |
-1.159 | 1.0 | N | 0.783 | 0.42 | 0.686938700362 | gnomAD-4.0.0 | 7.69105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.45815E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs749438176 |
0.493 | 0.997 | N | 0.647 | 0.395 | 0.440604514059 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs749438176 |
0.493 | 0.997 | N | 0.647 | 0.395 | 0.440604514059 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs749438176 |
0.493 | 0.997 | N | 0.647 | 0.395 | 0.440604514059 | gnomAD-4.0.0 | 2.56368E-06 | None | None | None | None | N | None | 3.38639E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7823 | likely_pathogenic | 0.7853 | pathogenic | -1.525 | Destabilizing | 0.999 | D | 0.635 | neutral | N | 0.474049173 | None | None | N |
| V/C | 0.9617 | likely_pathogenic | 0.966 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/D | 0.9949 | likely_pathogenic | 0.997 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.50416807 | None | None | N |
| V/E | 0.9824 | likely_pathogenic | 0.9881 | pathogenic | -1.762 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/F | 0.803 | likely_pathogenic | 0.842 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.504417878 | None | None | N |
| V/G | 0.9261 | likely_pathogenic | 0.9428 | pathogenic | -2.095 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.544428731 | None | None | N |
| V/H | 0.9942 | likely_pathogenic | 0.996 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/I | 0.1018 | likely_benign | 0.1032 | benign | 0.102 | Stabilizing | 0.997 | D | 0.544 | neutral | N | 0.505688437 | None | None | N |
| V/K | 0.9841 | likely_pathogenic | 0.9902 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| V/L | 0.6257 | likely_pathogenic | 0.6578 | pathogenic | 0.102 | Stabilizing | 0.997 | D | 0.647 | neutral | N | 0.521615108 | None | None | N |
| V/M | 0.6825 | likely_pathogenic | 0.7208 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/N | 0.9855 | likely_pathogenic | 0.9903 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/P | 0.9802 | likely_pathogenic | 0.9859 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/Q | 0.9798 | likely_pathogenic | 0.9862 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/R | 0.9746 | likely_pathogenic | 0.9845 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/S | 0.9572 | likely_pathogenic | 0.9643 | pathogenic | -2.264 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| V/T | 0.9022 | likely_pathogenic | 0.9148 | pathogenic | -1.793 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| V/W | 0.9967 | likely_pathogenic | 0.9979 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Y | 0.9822 | likely_pathogenic | 0.987 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.788 | 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.