Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26657 | 80194;80195;80196 | chr2:178566163;178566162;178566161 | chr2:179430890;179430889;179430888 |
| N2AB | 25016 | 75271;75272;75273 | chr2:178566163;178566162;178566161 | chr2:179430890;179430889;179430888 |
| N2A | 24089 | 72490;72491;72492 | chr2:178566163;178566162;178566161 | chr2:179430890;179430889;179430888 |
| N2B | 17592 | 52999;53000;53001 | chr2:178566163;178566162;178566161 | chr2:179430890;179430889;179430888 |
| Novex-1 | 17717 | 53374;53375;53376 | chr2:178566163;178566162;178566161 | chr2:179430890;179430889;179430888 |
| Novex-2 | 17784 | 53575;53576;53577 | chr2:178566163;178566162;178566161 | chr2:179430890;179430889;179430888 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1397158186  |
-1.043 | 1.0 | D | 0.775 | 0.893 | 0.716290961394 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/G | rs1397158186 |
-1.043 | 1.0 | D | 0.775 | 0.893 | 0.716290961394 | gnomAD-4.0.0 | 1.36852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79907E-06 | 0 | 0 |
| D/Y | rs781076407 |
-0.113 | 1.0 | D | 0.851 | 0.87 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| D/Y | rs781076407 |
-0.113 | 1.0 | D | 0.851 | 0.87 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| D/Y | rs781076407 |
-0.113 | 1.0 | D | 0.851 | 0.87 | None | gnomAD-4.0.0 | 1.54938E-05 | None | None | None | None | N | None | 1.33522E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.94967E-05 | 1.09789E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8904 | likely_pathogenic | 0.8535 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.655480722 | None | None | N |
| D/C | 0.954 | likely_pathogenic | 0.9407 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/E | 0.8678 | likely_pathogenic | 0.8136 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.585 | neutral | D | 0.617123553 | None | None | N |
| D/F | 0.9792 | likely_pathogenic | 0.9687 | pathogenic | 0.11 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/G | 0.9347 | likely_pathogenic | 0.9217 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.655682527 | None | None | N |
| D/H | 0.8334 | likely_pathogenic | 0.7992 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.590181735 | None | None | N |
| D/I | 0.9678 | likely_pathogenic | 0.9494 | pathogenic | 0.889 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/K | 0.9842 | likely_pathogenic | 0.9778 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/L | 0.9706 | likely_pathogenic | 0.9548 | pathogenic | 0.889 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/M | 0.9817 | likely_pathogenic | 0.9742 | pathogenic | 1.39 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/N | 0.5912 | likely_pathogenic | 0.55 | ambiguous | -1.103 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.59605729 | None | None | N |
| D/P | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | 0.552 | Stabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/Q | 0.9599 | likely_pathogenic | 0.9457 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/R | 0.9866 | likely_pathogenic | 0.9817 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/S | 0.7468 | likely_pathogenic | 0.7039 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| D/T | 0.9335 | likely_pathogenic | 0.9032 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/V | 0.914 | likely_pathogenic | 0.8736 | pathogenic | 0.552 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.656086135 | None | None | N |
| D/W | 0.9959 | likely_pathogenic | 0.9941 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/Y | 0.8622 | likely_pathogenic | 0.8221 | pathogenic | 0.29 | Stabilizing | 1.0 | D | 0.851 | deleterious | D | 0.655884331 | 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.