Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20114 | 60565;60566;60567 | chr2:178591385;178591384;178591383 | chr2:179456112;179456111;179456110 |
| N2AB | 18473 | 55642;55643;55644 | chr2:178591385;178591384;178591383 | chr2:179456112;179456111;179456110 |
| N2A | 17546 | 52861;52862;52863 | chr2:178591385;178591384;178591383 | chr2:179456112;179456111;179456110 |
| N2B | 11049 | 33370;33371;33372 | chr2:178591385;178591384;178591383 | chr2:179456112;179456111;179456110 |
| Novex-1 | 11174 | 33745;33746;33747 | chr2:178591385;178591384;178591383 | chr2:179456112;179456111;179456110 |
| Novex-2 | 11241 | 33946;33947;33948 | chr2:178591385;178591384;178591383 | chr2:179456112;179456111;179456110 |
| 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 | rs374632284  |
-1.341 | 0.201 | N | 0.396 | 0.073 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 2.58465E-04 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs374632284 |
-1.341 | 0.201 | N | 0.396 | 0.073 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 9.65E-05 | 1.31165E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs374632284 |
-1.341 | 0.201 | N | 0.396 | 0.073 | None | gnomAD-4.0.0 | 1.28223E-05 | None | None | None | None | N | None | 6.76842E-05 | 8.48234E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84657E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0655 | likely_benign | 0.0659 | benign | -1.275 | Destabilizing | 0.201 | N | 0.396 | neutral | N | 0.454264247 | None | None | N |
| T/C | 0.2733 | likely_benign | 0.294 | benign | -0.877 | Destabilizing | 0.977 | D | 0.658 | neutral | None | None | None | None | N |
| T/D | 0.3726 | ambiguous | 0.3918 | ambiguous | -0.582 | Destabilizing | 0.617 | D | 0.625 | neutral | None | None | None | None | N |
| T/E | 0.2855 | likely_benign | 0.2916 | benign | -0.517 | Destabilizing | 0.447 | N | 0.607 | neutral | None | None | None | None | N |
| T/F | 0.1704 | likely_benign | 0.1825 | benign | -1.347 | Destabilizing | 0.005 | N | 0.48 | neutral | None | None | None | None | N |
| T/G | 0.1847 | likely_benign | 0.1942 | benign | -1.582 | Destabilizing | 0.447 | N | 0.603 | neutral | None | None | None | None | N |
| T/H | 0.1952 | likely_benign | 0.2113 | benign | -1.852 | Destabilizing | 0.977 | D | 0.665 | neutral | None | None | None | None | N |
| T/I | 0.1123 | likely_benign | 0.1204 | benign | -0.521 | Destabilizing | 0.007 | N | 0.299 | neutral | N | 0.413513702 | None | None | N |
| T/K | 0.1363 | likely_benign | 0.1422 | benign | -0.78 | Destabilizing | 0.447 | N | 0.603 | neutral | None | None | None | None | N |
| T/L | 0.0852 | likely_benign | 0.0888 | benign | -0.521 | Destabilizing | 0.127 | N | 0.415 | neutral | None | None | None | None | N |
| T/M | 0.0792 | likely_benign | 0.0798 | benign | -0.182 | Destabilizing | 0.127 | N | 0.393 | neutral | None | None | None | None | N |
| T/N | 0.121 | likely_benign | 0.1245 | benign | -0.963 | Destabilizing | 0.379 | N | 0.606 | neutral | N | 0.492051844 | None | None | N |
| T/P | 0.3754 | ambiguous | 0.4149 | ambiguous | -0.741 | Destabilizing | 0.896 | D | 0.665 | neutral | N | 0.439700226 | None | None | N |
| T/Q | 0.1874 | likely_benign | 0.1929 | benign | -1.035 | Destabilizing | 0.85 | D | 0.665 | neutral | None | None | None | None | N |
| T/R | 0.1147 | likely_benign | 0.1214 | benign | -0.677 | Destabilizing | 0.85 | D | 0.666 | neutral | None | None | None | None | N |
| T/S | 0.0925 | likely_benign | 0.094 | benign | -1.304 | Destabilizing | 0.004 | N | 0.199 | neutral | N | 0.391138275 | None | None | N |
| T/V | 0.0951 | likely_benign | 0.0998 | benign | -0.741 | Destabilizing | 0.25 | N | 0.361 | neutral | None | None | None | None | N |
| T/W | 0.4653 | ambiguous | 0.49 | ambiguous | -1.254 | Destabilizing | 0.992 | D | 0.66 | neutral | None | None | None | None | N |
| T/Y | 0.2124 | likely_benign | 0.2249 | benign | -1.002 | Destabilizing | 0.739 | D | 0.675 | 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.