Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3704 | 11335;11336;11337 | chr2:178756366;178756365;178756364 | chr2:179621093;179621092;179621091 |
| 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 | 3533 | 10822;10823;10824 | chr2:178756366;178756365;178756364 | chr2:179621093;179621092;179621091 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | None | None | None | 0.022 | None | gnomAD-4.0.0 | 8.40225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 0 | 3.66327E-05 |
| E/K | rs769980091  |
0.77 | None | None | None | 0.045 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| E/K | rs769980091 |
0.77 | None | None | None | 0.045 | None | gnomAD-4.0.0 | 1.0263E-05 | None | None | None | None | N | None | 2.98757E-05 | 2.23654E-05 | None | 0 | 2.52067E-05 | None | 0 | 1.7343E-04 | 8.095E-06 | 0 | 3.31301E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.129 | likely_benign | None | None | 0.022 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/C | 0.7133 | likely_pathogenic | None | None | -0.253 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.1217 | likely_benign | None | None | -0.406 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/F | 0.6103 | likely_pathogenic | None | None | -0.049 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.094 | likely_benign | None | None | -0.065 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/H | 0.3479 | ambiguous | None | None | 0.577 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.3228 | likely_benign | None | None | 0.191 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.0805 | likely_benign | None | None | 0.364 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/L | 0.2993 | likely_benign | None | None | 0.191 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.3773 | ambiguous | None | None | -0.046 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.1978 | likely_benign | None | None | 0.117 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.2855 | likely_benign | None | None | 0.151 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.1187 | likely_benign | None | None | 0.126 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/R | 0.1404 | likely_benign | None | None | 0.556 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.1474 | likely_benign | None | None | 0.003 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.1896 | likely_benign | None | None | 0.088 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.197 | likely_benign | None | None | 0.151 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/W | 0.7175 | likely_pathogenic | None | None | -0.032 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.47 | ambiguous | None | None | 0.159 | Stabilizing | None | None | None | None | 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.