Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21759 | 65500;65501;65502 | chr2:178584276;178583906;178583905 | chr2:179449003;179448633;179448632 |
| N2AB | 20118 | 60577;60578;60579 | chr2:178584276;178583906;178583905 | chr2:179449003;179448633;179448632 |
| N2A | 19191 | 57796;57797;57798 | chr2:178584276;178583906;178583905 | chr2:179449003;179448633;179448632 |
| N2B | 12694 | 38305;38306;38307 | chr2:178584276;178583906;178583905 | chr2:179449003;179448633;179448632 |
| Novex-1 | 12819 | 38680;38681;38682 | chr2:178584276;178583906;178583905 | chr2:179449003;179448633;179448632 |
| Novex-2 | 12886 | 38881;38882;38883 | chr2:178584276;178583906;178583905 | chr2:179449003;179448633;179448632 |
| 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/E | None | None | 1.0 | N | 0.665 | None | 0.318540980066 | gnomAD-4.0.0 | 7.11632E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.2872E-05 | 0 |
| D/G | rs775903390  |
-1.167 | 1.0 | N | 0.799 | None | 0.256793551483 | gnomAD-2.1.1 | 5.32E-06 | None | None | None | None | N | None | 7.98E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs775903390 |
-1.167 | 1.0 | N | 0.799 | None | 0.256793551483 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs775903390 |
-1.167 | 1.0 | N | 0.799 | None | 0.256793551483 | gnomAD-4.0.0 | 3.2175E-06 | None | None | None | None | N | None | 6.8465E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/V | rs775903390 |
0.241 | 1.0 | N | 0.87 | None | 0.558070701127 | gnomAD-2.1.1 | 5.32E-05 | None | None | None | None | N | None | 0 | 1.92456E-04 | None | 0 | 6.78E-05 | None | 9.71E-05 | None | 0 | 2.39E-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 | 0.6867 | likely_pathogenic | 0.5926 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.475088087 | None | None | N |
| D/C | 0.9514 | likely_pathogenic | 0.9165 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| D/E | 0.7006 | likely_pathogenic | 0.595 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.477859564 | None | None | N |
| D/F | 0.932 | likely_pathogenic | 0.9002 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/G | 0.7495 | likely_pathogenic | 0.6429 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.452520382 | None | None | N |
| D/H | 0.8833 | likely_pathogenic | 0.8237 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.502346601 | None | None | N |
| D/I | 0.9486 | likely_pathogenic | 0.9105 | pathogenic | 0.484 | Stabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| D/K | 0.9713 | likely_pathogenic | 0.9517 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/L | 0.8622 | likely_pathogenic | 0.8222 | pathogenic | 0.484 | Stabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| D/M | 0.9609 | likely_pathogenic | 0.9352 | pathogenic | 0.931 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| D/N | 0.5738 | likely_pathogenic | 0.4578 | ambiguous | -1.325 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.482885993 | None | None | N |
| D/P | 0.9908 | likely_pathogenic | 0.9823 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| D/Q | 0.9247 | likely_pathogenic | 0.8716 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/R | 0.9711 | likely_pathogenic | 0.9529 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| D/S | 0.5085 | ambiguous | 0.4123 | ambiguous | -1.637 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/T | 0.8803 | likely_pathogenic | 0.7986 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/V | 0.881 | likely_pathogenic | 0.8126 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.87 | deleterious | N | 0.491750764 | None | None | N |
| D/W | 0.9886 | likely_pathogenic | 0.982 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| D/Y | 0.7503 | likely_pathogenic | 0.6632 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.50285358 | 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.