Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33336 | 100231;100232;100233 | chr2:178537103;178537102;178537101 | chr2:179401830;179401829;179401828 |
| N2AB | 31695 | 95308;95309;95310 | chr2:178537103;178537102;178537101 | chr2:179401830;179401829;179401828 |
| N2A | 30768 | 92527;92528;92529 | chr2:178537103;178537102;178537101 | chr2:179401830;179401829;179401828 |
| N2B | 24271 | 73036;73037;73038 | chr2:178537103;178537102;178537101 | chr2:179401830;179401829;179401828 |
| Novex-1 | 24396 | 73411;73412;73413 | chr2:178537103;178537102;178537101 | chr2:179401830;179401829;179401828 |
| Novex-2 | 24463 | 73612;73613;73614 | chr2:178537103;178537102;178537101 | chr2:179401830;179401829;179401828 |
| 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/R | rs757783646  |
-0.245 | 1.0 | N | 0.729 | 0.631 | 0.555475725382 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 8.31E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs757783646 |
-0.245 | 1.0 | N | 0.729 | 0.631 | 0.555475725382 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs757783646 |
-0.245 | 1.0 | N | 0.729 | 0.631 | 0.555475725382 | gnomAD-4.0.0 | 4.05977E-06 | None | None | None | None | N | None | 5.24292E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.40252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2056 | likely_benign | 0.1798 | benign | -0.45 | Destabilizing | 1.0 | D | 0.567 | neutral | N | 0.479196825 | None | None | N |
| G/C | 0.3289 | likely_benign | 0.3076 | benign | -1.086 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/D | 0.1499 | likely_benign | 0.1222 | benign | -0.811 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| G/E | 0.2129 | likely_benign | 0.1682 | benign | -0.956 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.480420912 | None | None | N |
| G/F | 0.7015 | likely_pathogenic | 0.6592 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/H | 0.4851 | ambiguous | 0.4343 | ambiguous | -0.454 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/I | 0.4185 | ambiguous | 0.3786 | ambiguous | -0.705 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/K | 0.4224 | ambiguous | 0.3897 | ambiguous | -0.845 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/L | 0.6124 | likely_pathogenic | 0.5794 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/M | 0.5861 | likely_pathogenic | 0.5517 | ambiguous | -0.888 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/N | 0.2095 | likely_benign | 0.1826 | benign | -0.537 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| G/P | 0.8315 | likely_pathogenic | 0.821 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/Q | 0.4222 | ambiguous | 0.3789 | ambiguous | -0.792 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/R | 0.3905 | ambiguous | 0.3678 | ambiguous | -0.42 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.491478184 | None | None | N |
| G/S | 0.1508 | likely_benign | 0.128 | benign | -0.68 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| G/T | 0.222 | likely_benign | 0.1886 | benign | -0.768 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/V | 0.2997 | likely_benign | 0.2635 | benign | -0.599 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.475575974 | None | None | N |
| G/W | 0.5891 | likely_pathogenic | 0.5633 | ambiguous | -1.237 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.503594958 | None | None | N |
| G/Y | 0.5333 | ambiguous | 0.47 | ambiguous | -0.977 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | 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.