Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18969 | 57130;57131;57132 | chr2:178598805;178598804;178598803 | chr2:179463532;179463531;179463530 |
| N2AB | 17328 | 52207;52208;52209 | chr2:178598805;178598804;178598803 | chr2:179463532;179463531;179463530 |
| N2A | 16401 | 49426;49427;49428 | chr2:178598805;178598804;178598803 | chr2:179463532;179463531;179463530 |
| N2B | 9904 | 29935;29936;29937 | chr2:178598805;178598804;178598803 | chr2:179463532;179463531;179463530 |
| Novex-1 | 10029 | 30310;30311;30312 | chr2:178598805;178598804;178598803 | chr2:179463532;179463531;179463530 |
| Novex-2 | 10096 | 30511;30512;30513 | chr2:178598805;178598804;178598803 | chr2:179463532;179463531;179463530 |
| 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/G | None | None | 1.0 | N | 0.631 | 0.415 | 0.439763647824 | gnomAD-4.0.0 | 2.05308E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69891E-06 | 0 | 0 |
| A/V | rs2052509018  |
None | 1.0 | N | 0.731 | 0.391 | 0.458101713262 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs2052509018 |
None | 1.0 | N | 0.731 | 0.391 | 0.458101713262 | gnomAD-4.0.0 | 6.57601E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47102E-05 | 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 | 0.8363 | likely_pathogenic | 0.8537 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| A/D | 0.991 | likely_pathogenic | 0.9886 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.490068924 | None | None | I |
| A/E | 0.9759 | likely_pathogenic | 0.9707 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| A/F | 0.9303 | likely_pathogenic | 0.9284 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| A/G | 0.6837 | likely_pathogenic | 0.6195 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.477445171 | None | None | I |
| A/H | 0.9768 | likely_pathogenic | 0.9757 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| A/I | 0.8236 | likely_pathogenic | 0.7615 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| A/K | 0.9871 | likely_pathogenic | 0.9835 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| A/L | 0.8336 | likely_pathogenic | 0.8093 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| A/M | 0.8562 | likely_pathogenic | 0.8291 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| A/N | 0.9622 | likely_pathogenic | 0.9538 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| A/P | 0.9883 | likely_pathogenic | 0.9856 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.514555961 | None | None | I |
| A/Q | 0.9532 | likely_pathogenic | 0.9402 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| A/R | 0.953 | likely_pathogenic | 0.9446 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| A/S | 0.3966 | ambiguous | 0.3571 | ambiguous | -0.609 | Destabilizing | 1.0 | D | 0.636 | neutral | N | 0.474206395 | None | None | I |
| A/T | 0.7654 | likely_pathogenic | 0.6727 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.495602333 | None | None | I |
| A/V | 0.5528 | ambiguous | 0.4624 | ambiguous | -0.382 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.494815295 | None | None | I |
| A/W | 0.9933 | likely_pathogenic | 0.9933 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| A/Y | 0.974 | likely_pathogenic | 0.9737 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.882 | 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.