Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9938 | 30037;30038;30039 | chr2:178704660;178704659;178704658 | chr2:179569387;179569386;179569385 |
| N2AB | 9621 | 29086;29087;29088 | chr2:178704660;178704659;178704658 | chr2:179569387;179569386;179569385 |
| N2A | 8694 | 26305;26306;26307 | chr2:178704660;178704659;178704658 | chr2:179569387;179569386;179569385 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/S | rs72650006  |
-0.128 | 0.146 | None | 0.341 | 0.101 | 0.12205267543 | gnomAD-2.1.1 | 1.93526E-02 | None | None | None | None | N | None | 4.09494E-03 | 1.50795E-02 | None | 1.74907E-02 | 1.03788E-04 | None | 1.56817E-02 | None | 2.57932E-02 | 2.60036E-02 | 2.19671E-02 |
| T/S | rs72650006 |
-0.128 | 0.146 | None | 0.341 | 0.101 | 0.12205267543 | gnomAD-3.1.2 | 1.91004E-02 | None | None | None | None | N | None | 5.089E-03 | 2.82031E-02 | 3.28947E-03 | 1.38488E-02 | 1.9253E-04 | None | 2.50329E-02 | 2.21519E-02 | 2.66524E-02 | 1.65769E-02 | 2.25096E-02 |
| T/S | rs72650006 |
-0.128 | 0.146 | None | 0.341 | 0.101 | 0.12205267543 | 1000 genomes | 1.05831E-02 | None | None | None | None | N | None | 0 | 1.87E-02 | None | None | 0 | 2.88E-02 | None | None | None | 1.12E-02 | None |
| T/S | rs72650006 |
-0.128 | 0.146 | None | 0.341 | 0.101 | 0.12205267543 | gnomAD-4.0.0 | 2.18754E-02 | None | None | None | None | N | None | 4.48998E-03 | 1.92642E-02 | None | 1.54992E-02 | 1.11433E-04 | None | 2.68728E-02 | 2.24571E-02 | 2.44015E-02 | 1.57653E-02 | 2.02423E-02 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4201 | ambiguous | 0.5247 | ambiguous | -0.255 | Destabilizing | 0.726 | D | 0.504 | neutral | None | None | None | None | N |
| T/C | 0.9495 | likely_pathogenic | 0.9748 | pathogenic | -0.423 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| T/D | 0.9042 | likely_pathogenic | 0.9384 | pathogenic | 0.097 | Stabilizing | 0.983 | D | 0.604 | neutral | None | None | None | None | N |
| T/E | 0.8652 | likely_pathogenic | 0.916 | pathogenic | 0.016 | Stabilizing | 0.983 | D | 0.599 | neutral | None | None | None | None | N |
| T/F | 0.8731 | likely_pathogenic | 0.9193 | pathogenic | -0.859 | Destabilizing | 0.992 | D | 0.627 | neutral | None | None | None | None | N |
| T/G | 0.7212 | likely_pathogenic | 0.7928 | pathogenic | -0.342 | Destabilizing | 0.895 | D | 0.529 | neutral | None | None | None | None | N |
| T/H | 0.856 | likely_pathogenic | 0.911 | pathogenic | -0.473 | Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| T/I | 0.7385 | likely_pathogenic | 0.8517 | pathogenic | -0.148 | Destabilizing | 0.989 | D | 0.618 | neutral | None | None | None | None | N |
| T/K | 0.6835 | likely_pathogenic | 0.7962 | pathogenic | -0.327 | Destabilizing | 0.968 | D | 0.605 | neutral | None | None | None | None | N |
| T/L | 0.5157 | ambiguous | 0.6215 | pathogenic | -0.148 | Destabilizing | 0.944 | D | 0.557 | neutral | None | None | None | None | N |
| T/M | 0.3466 | ambiguous | 0.4403 | ambiguous | -0.205 | Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| T/N | 0.5655 | likely_pathogenic | 0.6541 | pathogenic | -0.196 | Destabilizing | 0.957 | D | 0.599 | neutral | None | None | None | None | N |
| T/P | 0.4654 | ambiguous | 0.5685 | pathogenic | -0.157 | Destabilizing | 0.989 | D | 0.609 | neutral | None | None | None | None | N |
| T/Q | 0.7497 | likely_pathogenic | 0.8354 | pathogenic | -0.385 | Destabilizing | 0.983 | D | 0.607 | neutral | None | None | None | None | N |
| T/R | 0.6575 | likely_pathogenic | 0.7856 | pathogenic | -0.008 | Destabilizing | 0.983 | D | 0.602 | neutral | None | None | None | None | N |
| T/S | 0.4829 | ambiguous | 0.3232 | benign | -0.369 | Destabilizing | 0.146 | N | 0.341 | neutral | None | None | None | None | N |
| T/V | 0.6086 | likely_pathogenic | 0.7247 | pathogenic | -0.157 | Destabilizing | 0.944 | D | 0.512 | neutral | None | None | None | None | N |
| T/W | 0.9536 | likely_pathogenic | 0.9721 | pathogenic | -0.928 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| T/Y | 0.8958 | likely_pathogenic | 0.9382 | pathogenic | -0.613 | Destabilizing | 0.997 | D | 0.627 | neutral | 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.