Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3743 | 11452;11453;11454 | chr2:178756249;178756248;178756247 | chr2:179620976;179620975;179620974 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3572 | 10939;10940;10941 | chr2:178756249;178756248;178756247 | chr2:179620976;179620975;179620974 |
| 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/A | rs769955914  |
-1.13 | None | None | None | 0.058 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs769955914 |
-1.13 | None | None | None | 0.058 | None | gnomAD-4.0.0 | 1.59481E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.775E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs368071705 |
-0.139 | None | None | None | 0.132 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 5.12E-05 | None | 9.82E-05 | None | 0 | 1.56E-05 | 1.40766E-04 |
| T/M | rs368071705 |
-0.139 | None | None | None | 0.132 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/M | rs368071705 |
-0.139 | None | None | None | 0.132 | None | gnomAD-4.0.0 | 1.9851E-05 | None | None | None | None | I | None | 2.67044E-05 | 3.33456E-05 | None | 0 | 0 | None | 0 | 0 | 9.33406E-06 | 1.7582E-04 | 1.60226E-05 |
| T/R | None | None | None | None | None | 0.169 | None | gnomAD-4.0.0 | 6.85015E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00544E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1055 | likely_benign | None | None | -1.094 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/C | 0.5915 | likely_pathogenic | None | None | -0.556 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/D | 0.634 | likely_pathogenic | None | None | -0.853 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/E | 0.6477 | likely_pathogenic | None | None | -0.787 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/F | 0.562 | ambiguous | None | None | -0.961 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/G | 0.3901 | ambiguous | None | None | -1.43 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/H | 0.6376 | likely_pathogenic | None | None | -1.66 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/I | 0.4693 | ambiguous | None | None | -0.259 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/K | 0.6751 | likely_pathogenic | None | None | -0.873 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/L | 0.3186 | likely_benign | None | None | -0.259 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/M | 0.2378 | likely_benign | None | None | 0.144 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/N | 0.3471 | ambiguous | None | None | -1.048 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/P | 0.7356 | likely_pathogenic | None | None | -0.505 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Q | 0.599 | likely_pathogenic | None | None | -1.103 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/R | 0.5568 | ambiguous | None | None | -0.727 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/S | 0.1287 | likely_benign | None | None | -1.304 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/V | 0.3129 | likely_benign | None | None | -0.505 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/W | 0.8706 | likely_pathogenic | None | None | -0.947 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Y | 0.6303 | likely_pathogenic | None | None | -0.704 | 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.