Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6868 | 20827;20828;20829 | chr2:178725602;178725601;178725600 | chr2:179590329;179590328;179590327 |
| N2AB | 6551 | 19876;19877;19878 | chr2:178725602;178725601;178725600 | chr2:179590329;179590328;179590327 |
| N2A | 5624 | 17095;17096;17097 | chr2:178725602;178725601;178725600 | chr2:179590329;179590328;179590327 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs17355460  |
-0.517 | 1.0 | D | 0.781 | 0.585 | 0.742123482493 | gnomAD-2.1.1 | 1.16434E-02 | None | None | None | None | I | None | 3.23571E-03 | 5.40696E-03 | None | 9.2388E-03 | 0 | None | 7.43684E-03 | None | 1.26495E-02 | 1.7572E-02 | 1.49425E-02 |
| G/R | rs17355460 |
-0.517 | 1.0 | D | 0.781 | 0.585 | 0.742123482493 | gnomAD-3.1.2 | 1.16343E-02 | None | None | None | None | I | None | 3.25851E-03 | 1.09494E-02 | 3.95604E-02 | 1.1534E-02 | 0 | None | 1.04776E-02 | 0 | 1.77211E-02 | 8.10137E-03 | 1.72414E-02 |
| G/R | rs17355460 |
-0.517 | 1.0 | D | 0.781 | 0.585 | 0.742123482493 | 1000 genomes | 6.58946E-03 | None | None | None | None | I | None | 8E-04 | 8.6E-03 | None | None | 0 | 2.09E-02 | None | None | None | 5.1E-03 | None |
| G/R | rs17355460 |
-0.517 | 1.0 | D | 0.781 | 0.585 | 0.742123482493 | gnomAD-4.0.0 | 1.57669E-02 | None | None | None | None | I | None | 2.94063E-03 | 7.77315E-03 | None | 9.68117E-03 | 4.46668E-05 | None | 1.27968E-02 | 1.1794E-02 | 1.8499E-02 | 7.87297E-03 | 1.58189E-02 |
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 | 0.2847 | likely_benign | 0.2818 | benign | -0.554 | Destabilizing | 0.999 | D | 0.656 | neutral | D | 0.630790907 | None | None | I |
| G/C | 0.4986 | ambiguous | 0.5486 | ambiguous | -0.975 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| G/D | 0.1964 | likely_benign | 0.2264 | benign | -1.025 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/E | 0.2719 | likely_benign | 0.2929 | benign | -1.164 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.587820804 | None | None | I |
| G/F | 0.7646 | likely_pathogenic | 0.7847 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/H | 0.5273 | ambiguous | 0.554 | ambiguous | -0.834 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/I | 0.7288 | likely_pathogenic | 0.7694 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/K | 0.491 | ambiguous | 0.5272 | ambiguous | -1.245 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/L | 0.6454 | likely_pathogenic | 0.6505 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/M | 0.6943 | likely_pathogenic | 0.7031 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/N | 0.2891 | likely_benign | 0.2829 | benign | -0.891 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/P | 0.9615 | likely_pathogenic | 0.9677 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Q | 0.4004 | ambiguous | 0.4131 | ambiguous | -1.182 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.3577 | ambiguous | 0.4068 | ambiguous | -0.713 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.630992711 | None | None | I |
| G/S | 0.1465 | likely_benign | 0.1444 | benign | -1.031 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/T | 0.3516 | ambiguous | 0.3658 | ambiguous | -1.106 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| G/V | 0.5644 | likely_pathogenic | 0.6096 | pathogenic | -0.509 | Destabilizing | 0.989 | D | 0.651 | neutral | D | 0.631194515 | None | None | I |
| G/W | 0.5582 | ambiguous | 0.6264 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/Y | 0.6403 | likely_pathogenic | 0.6735 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
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.