Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35770 | 107533;107534;107535 | chr2:178528343;178528342;178528341 | chr2:179393070;179393069;179393068 |
| N2AB | 34129 | 102610;102611;102612 | chr2:178528343;178528342;178528341 | chr2:179393070;179393069;179393068 |
| N2A | 33202 | 99829;99830;99831 | chr2:178528343;178528342;178528341 | chr2:179393070;179393069;179393068 |
| N2B | 26705 | 80338;80339;80340 | chr2:178528343;178528342;178528341 | chr2:179393070;179393069;179393068 |
| Novex-1 | 26830 | 80713;80714;80715 | chr2:178528343;178528342;178528341 | chr2:179393070;179393069;179393068 |
| Novex-2 | 26897 | 80914;80915;80916 | chr2:178528343;178528342;178528341 | chr2:179393070;179393069;179393068 |
| 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/A | None | None | 1.0 | D | 0.772 | 0.833 | 0.480801007081 | gnomAD-4.0.0 | 6.84168E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99423E-07 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.833 | 0.849 | 0.773588285967 | gnomAD-4.0.0 | 6.84168E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.51953E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5181 | ambiguous | 0.5614 | ambiguous | -0.692 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.558450206 | None | None | I |
| G/C | 0.889 | likely_pathogenic | 0.917 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/D | 0.9143 | likely_pathogenic | 0.9072 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/E | 0.9361 | likely_pathogenic | 0.9288 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.652980503 | None | None | I |
| G/F | 0.9933 | likely_pathogenic | 0.9935 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.9886 | likely_pathogenic | 0.9891 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| G/I | 0.9871 | likely_pathogenic | 0.9884 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/K | 0.986 | likely_pathogenic | 0.9846 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/L | 0.9813 | likely_pathogenic | 0.9822 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/M | 0.9868 | likely_pathogenic | 0.9881 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/N | 0.9542 | likely_pathogenic | 0.9555 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/Q | 0.9496 | likely_pathogenic | 0.95 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/R | 0.9517 | likely_pathogenic | 0.9503 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.636759338 | None | None | I |
| G/S | 0.4558 | ambiguous | 0.4777 | ambiguous | -1.138 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/T | 0.9276 | likely_pathogenic | 0.9339 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/V | 0.9638 | likely_pathogenic | 0.9666 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.652980503 | None | None | I |
| G/W | 0.9868 | likely_pathogenic | 0.9864 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.9912 | likely_pathogenic | 0.9916 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.801 | 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.