Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34363 | 103312;103313;103314 | chr2:178533528;178533527;178533526 | chr2:179398255;179398254;179398253 |
| N2AB | 32722 | 98389;98390;98391 | chr2:178533528;178533527;178533526 | chr2:179398255;179398254;179398253 |
| N2A | 31795 | 95608;95609;95610 | chr2:178533528;178533527;178533526 | chr2:179398255;179398254;179398253 |
| N2B | 25298 | 76117;76118;76119 | chr2:178533528;178533527;178533526 | chr2:179398255;179398254;179398253 |
| Novex-1 | 25423 | 76492;76493;76494 | chr2:178533528;178533527;178533526 | chr2:179398255;179398254;179398253 |
| Novex-2 | 25490 | 76693;76694;76695 | chr2:178533528;178533527;178533526 | chr2:179398255;179398254;179398253 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1457631231  |
None | 0.235 | D | 0.743 | 0.732 | 0.856139998468 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs1457631231 |
None | 0.235 | D | 0.743 | 0.732 | 0.856139998468 | gnomAD-4.0.0 | 6.57333E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| P/R | rs1457631231 |
-0.798 | 0.997 | D | 0.875 | 0.778 | 0.893338283714 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1457631231 |
-0.798 | 0.997 | D | 0.875 | 0.778 | 0.893338283714 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs771573240 |
-2.062 | 0.997 | D | 0.883 | 0.749 | 0.725343530507 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/S | rs771573240 |
-2.062 | 0.997 | D | 0.883 | 0.749 | 0.725343530507 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs771573240 |
-2.062 | 0.997 | D | 0.883 | 0.749 | 0.725343530507 | gnomAD-4.0.0 | 4.95735E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78056E-06 | 0 | 0 |
| P/T | None | None | 0.997 | D | 0.875 | 0.749 | 0.858169626448 | gnomAD-4.0.0 | 6.84178E-07 | None | None | None | None | N | None | 2.98739E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9536 | likely_pathogenic | 0.9586 | pathogenic | -1.647 | Destabilizing | 0.977 | D | 0.81 | deleterious | D | 0.626131511 | None | None | N |
| P/C | 0.9979 | likely_pathogenic | 0.9969 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.431 | Highly Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| P/E | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.377 | Highly Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.425 | Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| P/G | 0.9958 | likely_pathogenic | 0.9944 | pathogenic | -1.985 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| P/H | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.659613223 | None | None | N |
| P/I | 0.9982 | likely_pathogenic | 0.9971 | pathogenic | -0.784 | Destabilizing | 0.99 | D | 0.862 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.33 | Destabilizing | 0.998 | D | 0.884 | deleterious | None | None | None | None | N |
| P/L | 0.9924 | likely_pathogenic | 0.9888 | pathogenic | -0.784 | Destabilizing | 0.235 | N | 0.743 | deleterious | D | 0.626736924 | None | None | N |
| P/M | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -0.96 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.454 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| P/Q | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -1.62 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| P/R | 0.9984 | likely_pathogenic | 0.9975 | pathogenic | -0.916 | Destabilizing | 0.997 | D | 0.875 | deleterious | D | 0.659411419 | None | None | N |
| P/S | 0.9956 | likely_pathogenic | 0.9948 | pathogenic | -1.962 | Destabilizing | 0.997 | D | 0.883 | deleterious | D | 0.633671503 | None | None | N |
| P/T | 0.9943 | likely_pathogenic | 0.9925 | pathogenic | -1.792 | Destabilizing | 0.997 | D | 0.875 | deleterious | D | 0.643392058 | None | None | N |
| P/V | 0.991 | likely_pathogenic | 0.9877 | pathogenic | -1.042 | Destabilizing | 0.99 | D | 0.855 | deleterious | None | None | None | None | N |
| P/W | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.308 | Destabilizing | 0.999 | D | 0.88 | deleterious | 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.