Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8171 | 24736;24737;24738 | chr2:178718595;178718594;178718593 | chr2:179583322;179583321;179583320 |
| N2AB | 7854 | 23785;23786;23787 | chr2:178718595;178718594;178718593 | chr2:179583322;179583321;179583320 |
| N2A | 6927 | 21004;21005;21006 | chr2:178718595;178718594;178718593 | chr2:179583322;179583321;179583320 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs755340155  |
-0.275 | 0.998 | N | 0.649 | 0.395 | None | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs755340155 |
-0.275 | 0.998 | N | 0.649 | 0.395 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs755340155 |
-0.275 | 0.998 | N | 0.649 | 0.395 | None | gnomAD-4.0.0 | 4.05981E-06 | None | None | None | None | N | None | 5.24256E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.40275E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9323 | likely_pathogenic | 0.9266 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| A/D | 0.995 | likely_pathogenic | 0.995 | pathogenic | -1.941 | Destabilizing | 0.999 | D | 0.783 | deleterious | N | 0.479072607 | None | None | N |
| A/E | 0.9886 | likely_pathogenic | 0.9899 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/F | 0.989 | likely_pathogenic | 0.991 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/G | 0.5182 | ambiguous | 0.5266 | ambiguous | -1.447 | Destabilizing | 0.998 | D | 0.623 | neutral | N | 0.479072607 | None | None | N |
| A/H | 0.9967 | likely_pathogenic | 0.9968 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/I | 0.9343 | likely_pathogenic | 0.9474 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/K | 0.9974 | likely_pathogenic | 0.9975 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/L | 0.8965 | likely_pathogenic | 0.9047 | pathogenic | -0.166 | Destabilizing | 0.998 | D | 0.724 | prob.delet. | None | None | None | None | N |
| A/M | 0.9518 | likely_pathogenic | 0.9609 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/N | 0.9879 | likely_pathogenic | 0.9895 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/P | 0.4888 | ambiguous | 0.4523 | ambiguous | -0.428 | Destabilizing | 0.64 | D | 0.389 | neutral | N | 0.418908374 | None | None | N |
| A/Q | 0.9857 | likely_pathogenic | 0.9875 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/R | 0.9918 | likely_pathogenic | 0.9916 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/S | 0.407 | ambiguous | 0.443 | ambiguous | -1.681 | Destabilizing | 0.998 | D | 0.61 | neutral | N | 0.479579586 | None | None | N |
| A/T | 0.751 | likely_pathogenic | 0.7786 | pathogenic | -1.481 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | N | 0.480593544 | None | None | N |
| A/V | 0.7317 | likely_pathogenic | 0.7617 | pathogenic | -0.428 | Destabilizing | 0.998 | D | 0.649 | neutral | N | 0.481354013 | None | None | N |
| A/W | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/Y | 0.996 | likely_pathogenic | 0.9965 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.796 | 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.