Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17509 | 52750;52751;52752 | chr2:178608358;178608357;178608356 | chr2:179473085;179473084;179473083 |
| N2AB | 15868 | 47827;47828;47829 | chr2:178608358;178608357;178608356 | chr2:179473085;179473084;179473083 |
| N2A | 14941 | 45046;45047;45048 | chr2:178608358;178608357;178608356 | chr2:179473085;179473084;179473083 |
| N2B | 8444 | 25555;25556;25557 | chr2:178608358;178608357;178608356 | chr2:179473085;179473084;179473083 |
| Novex-1 | 8569 | 25930;25931;25932 | chr2:178608358;178608357;178608356 | chr2:179473085;179473084;179473083 |
| Novex-2 | 8636 | 26131;26132;26133 | chr2:178608358;178608357;178608356 | chr2:179473085;179473084;179473083 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs748170111  |
-1.641 | 1.0 | N | 0.891 | 0.481 | 0.365892764245 | gnomAD-2.1.1 | 8.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 9E-06 | 0 |
| R/C | rs748170111 |
-1.641 | 1.0 | N | 0.891 | 0.481 | 0.365892764245 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07211E-04 | 0 |
| R/C | rs748170111 |
-1.641 | 1.0 | N | 0.891 | 0.481 | 0.365892764245 | gnomAD-4.0.0 | 4.96392E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24093E-06 | 3.30033E-05 | 0 |
| R/H | rs886055267 |
-2.543 | 1.0 | N | 0.771 | 0.484 | 0.423119698836 | gnomAD-2.1.1 | 3.24E-05 | None | None | None | None | N | None | 4.16E-05 | 0 | None | 0 | 1.04679E-04 | None | 3.29E-05 | None | 0 | 3.95E-05 | 0 |
| R/H | rs886055267 |
-2.543 | 1.0 | N | 0.771 | 0.484 | 0.423119698836 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/H | rs886055267 |
-2.543 | 1.0 | N | 0.771 | 0.484 | 0.423119698836 | gnomAD-4.0.0 | 3.16389E-05 | None | None | None | None | N | None | 1.33647E-05 | 1.67096E-05 | None | 0 | 2.24527E-05 | None | 0 | 0 | 3.90133E-05 | 1.09987E-05 | 1.6039E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9862 | likely_pathogenic | 0.9684 | pathogenic | -2.174 | Highly Destabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | N |
| R/C | 0.7876 | likely_pathogenic | 0.6544 | pathogenic | -2.073 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | N | 0.508824742 | None | None | N |
| R/D | 0.9981 | likely_pathogenic | 0.9962 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| R/E | 0.9797 | likely_pathogenic | 0.9572 | pathogenic | -0.673 | Destabilizing | 0.999 | D | 0.543 | neutral | None | None | None | None | N |
| R/F | 0.988 | likely_pathogenic | 0.9769 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| R/G | 0.9677 | likely_pathogenic | 0.941 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.48082944 | None | None | N |
| R/H | 0.6654 | likely_pathogenic | 0.5493 | ambiguous | -2.317 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.479690578 | None | None | N |
| R/I | 0.9808 | likely_pathogenic | 0.9555 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| R/K | 0.2947 | likely_benign | 0.2269 | benign | -1.398 | Destabilizing | 0.998 | D | 0.469 | neutral | None | None | None | None | N |
| R/L | 0.9145 | likely_pathogenic | 0.8348 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.47842313 | None | None | N |
| R/M | 0.9363 | likely_pathogenic | 0.8596 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| R/N | 0.9939 | likely_pathogenic | 0.9861 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| R/P | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.51729144 | None | None | N |
| R/Q | 0.5998 | likely_pathogenic | 0.4466 | ambiguous | -1.277 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| R/S | 0.9948 | likely_pathogenic | 0.9876 | pathogenic | -2.33 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.481251352 | None | None | N |
| R/T | 0.9894 | likely_pathogenic | 0.9726 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/V | 0.9826 | likely_pathogenic | 0.9584 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| R/W | 0.8846 | likely_pathogenic | 0.8148 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| R/Y | 0.9548 | likely_pathogenic | 0.9206 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.911 | 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.