Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16727 | 50404;50405;50406 | chr2:178612346;178612345;178612344 | chr2:179477073;179477072;179477071 |
| N2AB | 15086 | 45481;45482;45483 | chr2:178612346;178612345;178612344 | chr2:179477073;179477072;179477071 |
| N2A | 14159 | 42700;42701;42702 | chr2:178612346;178612345;178612344 | chr2:179477073;179477072;179477071 |
| N2B | 7662 | 23209;23210;23211 | chr2:178612346;178612345;178612344 | chr2:179477073;179477072;179477071 |
| Novex-1 | 7787 | 23584;23585;23586 | chr2:178612346;178612345;178612344 | chr2:179477073;179477072;179477071 |
| Novex-2 | 7854 | 23785;23786;23787 | chr2:178612346;178612345;178612344 | chr2:179477073;179477072;179477071 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs766576103  |
-1.966 | 1.0 | D | 0.797 | 0.795 | 0.625265535518 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| A/T | rs766576103 |
-1.966 | 1.0 | D | 0.797 | 0.795 | 0.625265535518 | gnomAD-4.0.0 | 4.10832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95878E-05 | 0 |
| A/V | None | None | 1.0 | D | 0.711 | 0.78 | 0.787238543218 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8517 | likely_pathogenic | 0.8756 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/D | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.705 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/E | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -2.487 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.849625658 | None | None | N |
| A/F | 0.9954 | likely_pathogenic | 0.9968 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/G | 0.7518 | likely_pathogenic | 0.7728 | pathogenic | -2.468 | Highly Destabilizing | 1.0 | D | 0.628 | neutral | D | 0.721758443 | None | None | N |
| A/H | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/I | 0.9754 | likely_pathogenic | 0.9888 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/L | 0.9461 | likely_pathogenic | 0.9611 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/M | 0.9797 | likely_pathogenic | 0.9846 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/N | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/P | 0.9793 | likely_pathogenic | 0.9938 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.797609372 | None | None | N |
| A/Q | 0.9953 | likely_pathogenic | 0.9957 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/R | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/S | 0.5386 | ambiguous | 0.5682 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.619 | neutral | D | 0.666175656 | None | None | N |
| A/T | 0.8647 | likely_pathogenic | 0.8956 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.761968214 | None | None | N |
| A/V | 0.8499 | likely_pathogenic | 0.9229 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.798851278 | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/Y | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.871 | deleterious | 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.