Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3490 | 10693;10694;10695 | chr2:178757752;178757751;178757750 | chr2:179622479;179622478;179622477 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3444 | 10555;10556;10557 | chr2:178757752;178757751;178757750 | chr2:179622479;179622478;179622477 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs970694174  |
-0.618 | None | None | None | 0.586 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs970694174 |
-0.618 | None | None | None | 0.586 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs970694174 |
-0.618 | None | None | None | 0.586 | None | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | I | None | 2.41488E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs2087749364 |
None | None | None | None | 0.468 | None | gnomAD-4.0.0 | 5.47355E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.76367E-04 | None | 0 | 0 | 8.99475E-07 | 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 | 0.3588 | ambiguous | None | None | -0.47 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/C | 0.8433 | likely_pathogenic | None | None | -0.852 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/D | 0.9773 | likely_pathogenic | None | None | -0.865 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/E | 0.9839 | likely_pathogenic | None | None | -0.987 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/F | 0.9914 | likely_pathogenic | None | None | -1.015 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/H | 0.9921 | likely_pathogenic | None | None | -0.972 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/I | 0.9639 | likely_pathogenic | None | None | -0.378 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/K | 0.995 | likely_pathogenic | None | None | -1.193 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/L | 0.9821 | likely_pathogenic | None | None | -0.378 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/M | 0.9872 | likely_pathogenic | None | None | -0.39 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/N | 0.9808 | likely_pathogenic | None | None | -0.791 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/P | 0.9971 | likely_pathogenic | None | None | -0.37 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Q | 0.987 | likely_pathogenic | None | None | -1.024 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/R | 0.9781 | likely_pathogenic | None | None | -0.784 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/S | 0.5034 | ambiguous | None | None | -0.943 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/T | 0.8566 | likely_pathogenic | None | None | -0.992 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/V | 0.8975 | likely_pathogenic | None | None | -0.37 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/W | 0.9891 | likely_pathogenic | None | None | -1.286 | Destabilizing | None | None | None | None | None | None | None | None | I |
| G/Y | 0.9908 | likely_pathogenic | None | None | -0.909 | Destabilizing | None | None | None | None | 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.