Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14748 | 44467;44468;44469 | chr2:178630280;178630279;178630278 | chr2:179495007;179495006;179495005 |
| N2AB | 13107 | 39544;39545;39546 | chr2:178630280;178630279;178630278 | chr2:179495007;179495006;179495005 |
| N2A | 12180 | 36763;36764;36765 | chr2:178630280;178630279;178630278 | chr2:179495007;179495006;179495005 |
| N2B | 5683 | 17272;17273;17274 | chr2:178630280;178630279;178630278 | chr2:179495007;179495006;179495005 |
| Novex-1 | 5808 | 17647;17648;17649 | chr2:178630280;178630279;178630278 | chr2:179495007;179495006;179495005 |
| Novex-2 | 5875 | 17848;17849;17850 | chr2:178630280;178630279;178630278 | chr2:179495007;179495006;179495005 |
| 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/V | None | None | 0.999 | N | 0.679 | 0.465 | 0.384419519794 | gnomAD-4.0.0 | 1.59264E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8319 | likely_pathogenic | 0.8483 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/D | 0.9656 | likely_pathogenic | 0.9732 | pathogenic | -2.378 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.616410793 | None | None | N |
| A/E | 0.9617 | likely_pathogenic | 0.9673 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/F | 0.8942 | likely_pathogenic | 0.8637 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/G | 0.3662 | ambiguous | 0.4068 | ambiguous | -1.626 | Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.536202834 | None | None | N |
| A/H | 0.9769 | likely_pathogenic | 0.9779 | pathogenic | -2.165 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/I | 0.7846 | likely_pathogenic | 0.7699 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/K | 0.9849 | likely_pathogenic | 0.9867 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/L | 0.6661 | likely_pathogenic | 0.6018 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/M | 0.7676 | likely_pathogenic | 0.742 | pathogenic | 0.006 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/N | 0.9524 | likely_pathogenic | 0.9561 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/P | 0.98 | likely_pathogenic | 0.9802 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.615914796 | None | None | N |
| A/Q | 0.9656 | likely_pathogenic | 0.9654 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/R | 0.966 | likely_pathogenic | 0.9667 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/S | 0.3704 | ambiguous | 0.426 | ambiguous | -1.92 | Destabilizing | 0.999 | D | 0.65 | prob.neutral | N | 0.441429974 | None | None | N |
| A/T | 0.4493 | ambiguous | 0.5098 | ambiguous | -1.66 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.534500064 | None | None | N |
| A/V | 0.4244 | ambiguous | 0.434 | ambiguous | -0.363 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.480511913 | None | None | N |
| A/W | 0.9903 | likely_pathogenic | 0.9868 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.9539 | likely_pathogenic | 0.9459 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.893 | 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.