Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 53 | 382;383;384 | chr2:178802276;178802275;178802274 | chr2:179667003;179667002;179667001 |
| N2AB | 53 | 382;383;384 | chr2:178802276;178802275;178802274 | chr2:179667003;179667002;179667001 |
| N2A | 53 | 382;383;384 | chr2:178802276;178802275;178802274 | chr2:179667003;179667002;179667001 |
| N2B | 53 | 382;383;384 | chr2:178802276;178802275;178802274 | chr2:179667003;179667002;179667001 |
| Novex-1 | 53 | 382;383;384 | chr2:178802276;178802275;178802274 | chr2:179667003;179667002;179667001 |
| Novex-2 | 53 | 382;383;384 | chr2:178802276;178802275;178802274 | chr2:179667003;179667002;179667001 |
| Novex-3 | 53 | 382;383;384 | chr2:178802276;178802275;178802274 | chr2:179667003;179667002;179667001 |
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/S | rs150902810  |
-1.021 | 1.0 | N | 0.729 | 0.392 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | 0.231(TCAP) | N | None | 6.15E-05 | 5.78E-05 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 3.52E-05 | 0 |
| G/S | rs150902810 |
-1.021 | 1.0 | N | 0.729 | 0.392 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | 0.231(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs150902810 |
-1.021 | 1.0 | N | 0.729 | 0.392 | None | 1000 genomes | 1.99681E-04 | None | None | None | 0.231(TCAP) | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs150902810 |
-1.021 | 1.0 | N | 0.729 | 0.392 | None | gnomAD-4.0.0 | 7.43445E-06 | None | None | None | 0.231(TCAP) | N | None | 1.3328E-05 | 3.33222E-05 | None | 0 | 0 | None | 0 | 0 | 2.54236E-06 | 3.29395E-05 | 4.79969E-05 |
| G/V | None | None | 1.0 | N | 0.804 | 0.486 | 0.443999229985 | gnomAD-4.0.0 | 3.42034E-06 | None | None | None | -0.001(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59717E-06 | 0 | 1.65579E-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 | 0.1782 | likely_benign | 0.2661 | benign | -0.438 | Destabilizing | 0.999 | D | 0.644 | neutral | N | 0.449250938 | None | -0.094(TCAP) | N |
| G/C | 0.6933 | likely_pathogenic | 0.8229 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.454290201 | None | 0.704(TCAP) | N |
| G/D | 0.1752 | likely_benign | 0.3556 | ambiguous | -0.983 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.376401492 | None | 0.564(TCAP) | N |
| G/E | 0.2126 | likely_benign | 0.4017 | ambiguous | -1.124 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | 0.524(TCAP) | N |
| G/F | 0.7767 | likely_pathogenic | 0.9053 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | 0.652(TCAP) | N |
| G/H | 0.5296 | ambiguous | 0.7362 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | 0.951(TCAP) | N |
| G/I | 0.5824 | likely_pathogenic | 0.7965 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | 0.04(TCAP) | N |
| G/K | 0.5531 | ambiguous | 0.7865 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | 0.314(TCAP) | N |
| G/L | 0.6414 | likely_pathogenic | 0.8176 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | 0.04(TCAP) | N |
| G/M | 0.6728 | likely_pathogenic | 0.834 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | 0.573(TCAP) | N |
| G/N | 0.2463 | likely_benign | 0.3966 | ambiguous | -0.847 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | 0.155(TCAP) | N |
| G/P | 0.905 | likely_pathogenic | 0.9659 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | -0.001(TCAP) | N |
| G/Q | 0.3864 | ambiguous | 0.5801 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | 0.335(TCAP) | N |
| G/R | 0.4326 | ambiguous | 0.6733 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.304404416 | None | 0.012(TCAP) | N |
| G/S | 0.1122 | likely_benign | 0.1603 | benign | -0.944 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.427871443 | None | 0.231(TCAP) | N |
| G/T | 0.2445 | likely_benign | 0.4051 | ambiguous | -1.022 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | 0.235(TCAP) | N |
| G/V | 0.4069 | ambiguous | 0.6411 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.433631375 | None | -0.001(TCAP) | N |
| G/W | 0.6883 | likely_pathogenic | 0.8603 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | 0.707(TCAP) | N |
| G/Y | 0.668 | likely_pathogenic | 0.8442 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | 0.7(TCAP) | 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.