Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18620 | 56083;56084;56085 | chr2:178601046;178601045;178601044 | chr2:179465773;179465772;179465771 |
| N2AB | 16979 | 51160;51161;51162 | chr2:178601046;178601045;178601044 | chr2:179465773;179465772;179465771 |
| N2A | 16052 | 48379;48380;48381 | chr2:178601046;178601045;178601044 | chr2:179465773;179465772;179465771 |
| N2B | 9555 | 28888;28889;28890 | chr2:178601046;178601045;178601044 | chr2:179465773;179465772;179465771 |
| Novex-1 | 9680 | 29263;29264;29265 | chr2:178601046;178601045;178601044 | chr2:179465773;179465772;179465771 |
| Novex-2 | 9747 | 29464;29465;29466 | chr2:178601046;178601045;178601044 | chr2:179465773;179465772;179465771 |
| 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 | rs549301447  |
-1.577 | 0.081 | N | 0.343 | 0.096 | 0.101711395817 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 8.94E-06 | 0 |
| A/G | rs549301447 |
-1.577 | 0.081 | N | 0.343 | 0.096 | 0.101711395817 | gnomAD-4.0.0 | 3.42264E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69933E-06 | 0 | 3.31433E-05 |
| A/V | rs549301447 |
-0.171 | 0.001 | N | 0.209 | 0.103 | 0.177238962908 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs549301447 |
-0.171 | 0.001 | N | 0.209 | 0.103 | 0.177238962908 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/V | rs549301447 |
-0.171 | 0.001 | N | 0.209 | 0.103 | 0.177238962908 | gnomAD-4.0.0 | 1.85999E-06 | None | None | None | None | N | None | 0 | 1.66839E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19766E-05 | 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 | 0.3203 | likely_benign | 0.3497 | ambiguous | -0.817 | Destabilizing | 0.859 | D | 0.465 | neutral | None | None | None | None | N |
| A/D | 0.2898 | likely_benign | 0.2684 | benign | -1.302 | Destabilizing | 0.124 | N | 0.411 | neutral | None | None | None | None | N |
| A/E | 0.1976 | likely_benign | 0.1874 | benign | -1.26 | Destabilizing | 0.001 | N | 0.292 | neutral | N | 0.368864422 | None | None | N |
| A/F | 0.239 | likely_benign | 0.2244 | benign | -0.833 | Destabilizing | 0.667 | D | 0.507 | neutral | None | None | None | None | N |
| A/G | 0.1433 | likely_benign | 0.1343 | benign | -1.32 | Destabilizing | 0.081 | N | 0.343 | neutral | N | 0.412060626 | None | None | N |
| A/H | 0.2937 | likely_benign | 0.2874 | benign | -1.534 | Destabilizing | 0.667 | D | 0.499 | neutral | None | None | None | None | N |
| A/I | 0.1925 | likely_benign | 0.174 | benign | -0.158 | Destabilizing | 0.124 | N | 0.403 | neutral | None | None | None | None | N |
| A/K | 0.2756 | likely_benign | 0.2691 | benign | -1.144 | Destabilizing | 0.055 | N | 0.372 | neutral | None | None | None | None | N |
| A/L | 0.1279 | likely_benign | 0.1216 | benign | -0.158 | Destabilizing | 0.055 | N | 0.375 | neutral | None | None | None | None | N |
| A/M | 0.22 | likely_benign | 0.2023 | benign | -0.155 | Destabilizing | 0.667 | D | 0.451 | neutral | None | None | None | None | N |
| A/N | 0.2164 | likely_benign | 0.2069 | benign | -0.94 | Destabilizing | 0.22 | N | 0.429 | neutral | None | None | None | None | N |
| A/P | 0.2331 | likely_benign | 0.2486 | benign | -0.388 | Destabilizing | 0.301 | N | 0.443 | neutral | N | 0.392434715 | None | None | N |
| A/Q | 0.1996 | likely_benign | 0.1989 | benign | -0.997 | Destabilizing | 0.124 | N | 0.449 | neutral | None | None | None | None | N |
| A/R | 0.2166 | likely_benign | 0.2148 | benign | -0.946 | Destabilizing | 0.001 | N | 0.352 | neutral | None | None | None | None | N |
| A/S | 0.0863 | likely_benign | 0.0831 | benign | -1.363 | Destabilizing | 0.001 | N | 0.14 | neutral | N | 0.363864034 | None | None | N |
| A/T | 0.0963 | likely_benign | 0.0853 | benign | -1.216 | Destabilizing | 0.001 | N | 0.191 | neutral | N | 0.393320149 | None | None | N |
| A/V | 0.1103 | likely_benign | 0.1005 | benign | -0.388 | Destabilizing | 0.001 | N | 0.209 | neutral | N | 0.424296417 | None | None | N |
| A/W | 0.5399 | ambiguous | 0.5204 | ambiguous | -1.301 | Destabilizing | 0.958 | D | 0.552 | neutral | None | None | None | None | N |
| A/Y | 0.306 | likely_benign | 0.3001 | benign | -0.845 | Destabilizing | 0.859 | D | 0.499 | 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.