Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27559 | 82900;82901;82902 | chr2:178563457;178563456;178563455 | chr2:179428184;179428183;179428182 |
| N2AB | 25918 | 77977;77978;77979 | chr2:178563457;178563456;178563455 | chr2:179428184;179428183;179428182 |
| N2A | 24991 | 75196;75197;75198 | chr2:178563457;178563456;178563455 | chr2:179428184;179428183;179428182 |
| N2B | 18494 | 55705;55706;55707 | chr2:178563457;178563456;178563455 | chr2:179428184;179428183;179428182 |
| Novex-1 | 18619 | 56080;56081;56082 | chr2:178563457;178563456;178563455 | chr2:179428184;179428183;179428182 |
| Novex-2 | 18686 | 56281;56282;56283 | chr2:178563457;178563456;178563455 | chr2:179428184;179428183;179428182 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs763989757  |
-0.236 | 0.994 | N | 0.745 | 0.453 | 0.465381546717 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/C | rs763989757 |
-0.236 | 0.994 | N | 0.745 | 0.453 | 0.465381546717 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/C | rs763989757 |
-0.236 | 0.994 | N | 0.745 | 0.453 | 0.465381546717 | gnomAD-4.0.0 | 5.12563E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57336E-06 | 0 | 0 |
| S/F | rs763989757 |
-0.585 | 0.979 | N | 0.79 | 0.473 | 0.610564787575 | 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 |
| S/F | rs763989757 |
-0.585 | 0.979 | N | 0.79 | 0.473 | 0.610564787575 | gnomAD-4.0.0 | 1.59153E-06 | None | None | None | None | N | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | None | None | 0.007 | N | 0.537 | 0.314 | 0.168933306366 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3291 | likely_benign | 0.3495 | ambiguous | -0.542 | Destabilizing | 0.469 | N | 0.564 | neutral | N | 0.493379698 | None | None | N |
| S/C | 0.3596 | ambiguous | 0.3673 | ambiguous | -0.033 | Destabilizing | 0.994 | D | 0.745 | deleterious | N | 0.503396558 | None | None | N |
| S/D | 0.9753 | likely_pathogenic | 0.9719 | pathogenic | -0.946 | Destabilizing | 0.852 | D | 0.685 | prob.delet. | None | None | None | None | N |
| S/E | 0.9911 | likely_pathogenic | 0.9906 | pathogenic | -0.728 | Destabilizing | 0.74 | D | 0.698 | prob.delet. | None | None | None | None | N |
| S/F | 0.9666 | likely_pathogenic | 0.9715 | pathogenic | -0.344 | Destabilizing | 0.979 | D | 0.79 | deleterious | N | 0.506003451 | None | None | N |
| S/G | 0.3127 | likely_benign | 0.3359 | benign | -0.947 | Destabilizing | 0.74 | D | 0.611 | neutral | None | None | None | None | N |
| S/H | 0.9786 | likely_pathogenic | 0.9795 | pathogenic | -1.165 | Destabilizing | 0.996 | D | 0.736 | deleterious | None | None | None | None | N |
| S/I | 0.9351 | likely_pathogenic | 0.9408 | pathogenic | 0.501 | Stabilizing | 0.909 | D | 0.789 | deleterious | None | None | None | None | N |
| S/K | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | 0.297 | Stabilizing | 0.74 | D | 0.689 | prob.delet. | None | None | None | None | N |
| S/L | 0.7019 | likely_pathogenic | 0.7323 | pathogenic | 0.501 | Stabilizing | 0.74 | D | 0.767 | deleterious | None | None | None | None | N |
| S/M | 0.8253 | likely_pathogenic | 0.8393 | pathogenic | 0.259 | Stabilizing | 0.996 | D | 0.737 | deleterious | None | None | None | None | N |
| S/N | 0.912 | likely_pathogenic | 0.9093 | pathogenic | -0.41 | Destabilizing | 0.852 | D | 0.657 | prob.neutral | None | None | None | None | N |
| S/P | 0.9774 | likely_pathogenic | 0.9843 | pathogenic | 0.187 | Stabilizing | 0.007 | N | 0.537 | neutral | N | 0.518120225 | None | None | N |
| S/Q | 0.989 | likely_pathogenic | 0.9889 | pathogenic | -0.112 | Destabilizing | 0.953 | D | 0.743 | deleterious | None | None | None | None | N |
| S/R | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -0.19 | Destabilizing | 0.953 | D | 0.809 | deleterious | None | None | None | None | N |
| S/T | 0.1481 | likely_benign | 0.1605 | benign | -0.088 | Destabilizing | 0.028 | N | 0.379 | neutral | N | 0.468895343 | None | None | N |
| S/V | 0.8157 | likely_pathogenic | 0.8354 | pathogenic | 0.187 | Stabilizing | 0.74 | D | 0.747 | deleterious | None | None | None | None | N |
| S/W | 0.9794 | likely_pathogenic | 0.9825 | pathogenic | -0.651 | Destabilizing | 0.996 | D | 0.783 | deleterious | None | None | None | None | N |
| S/Y | 0.9728 | likely_pathogenic | 0.9736 | pathogenic | -0.131 | Destabilizing | 0.979 | D | 0.774 | deleterious | D | 0.528969551 | 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.