Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16886 | 50881;50882;50883 | chr2:178611573;178611572;178611571 | chr2:179476300;179476299;179476298 |
| N2AB | 15245 | 45958;45959;45960 | chr2:178611573;178611572;178611571 | chr2:179476300;179476299;179476298 |
| N2A | 14318 | 43177;43178;43179 | chr2:178611573;178611572;178611571 | chr2:179476300;179476299;179476298 |
| N2B | 7821 | 23686;23687;23688 | chr2:178611573;178611572;178611571 | chr2:179476300;179476299;179476298 |
| Novex-1 | 7946 | 24061;24062;24063 | chr2:178611573;178611572;178611571 | chr2:179476300;179476299;179476298 |
| Novex-2 | 8013 | 24262;24263;24264 | chr2:178611573;178611572;178611571 | chr2:179476300;179476299;179476298 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1472760570  |
-0.131 | 1.0 | D | 0.595 | 0.453 | 0.41337360676 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/A | rs1472760570 |
-0.131 | 1.0 | D | 0.595 | 0.453 | 0.41337360676 | gnomAD-4.0.0 | 3.18583E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86623E-05 | 0 |
| G/R | rs755860911 |
-1.052 | 1.0 | D | 0.875 | 0.471 | 0.782557820191 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs755860911 |
-1.052 | 1.0 | D | 0.875 | 0.471 | 0.782557820191 | gnomAD-4.0.0 | 8.89877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07974E-05 | 1.15961E-05 | 0 |
| G/V | rs1472760570 |
0.756 | 1.0 | D | 0.887 | 0.531 | 0.907367767743 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1472760570 |
0.756 | 1.0 | D | 0.887 | 0.531 | 0.907367767743 | gnomAD-4.0.0 | 1.59291E-06 | None | None | None | None | N | None | 0 | 2.2877E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.911 | likely_pathogenic | 0.8934 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.595 | neutral | D | 0.562729862 | None | None | N |
| G/C | 0.9837 | likely_pathogenic | 0.98 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/D | 0.9962 | likely_pathogenic | 0.9967 | pathogenic | -1.994 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/E | 0.9975 | likely_pathogenic | 0.9979 | pathogenic | -1.861 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.537020999 | None | None | N |
| G/F | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/H | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/I | 0.999 | likely_pathogenic | 0.9986 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/K | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/L | 0.998 | likely_pathogenic | 0.9976 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.9992 | likely_pathogenic | 0.999 | pathogenic | 0.263 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/N | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/Q | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/R | 0.9969 | likely_pathogenic | 0.9963 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.561310729 | None | None | N |
| G/S | 0.9165 | likely_pathogenic | 0.8973 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/T | 0.993 | likely_pathogenic | 0.9922 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/V | 0.9976 | likely_pathogenic | 0.9969 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.887 | deleterious | D | 0.725770337 | None | None | N |
| G/W | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/Y | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.855 | 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.