Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27763 | 83512;83513;83514 | chr2:178562845;178562844;178562843 | chr2:179427572;179427571;179427570 |
| N2AB | 26122 | 78589;78590;78591 | chr2:178562845;178562844;178562843 | chr2:179427572;179427571;179427570 |
| N2A | 25195 | 75808;75809;75810 | chr2:178562845;178562844;178562843 | chr2:179427572;179427571;179427570 |
| N2B | 18698 | 56317;56318;56319 | chr2:178562845;178562844;178562843 | chr2:179427572;179427571;179427570 |
| Novex-1 | 18823 | 56692;56693;56694 | chr2:178562845;178562844;178562843 | chr2:179427572;179427571;179427570 |
| Novex-2 | 18890 | 56893;56894;56895 | chr2:178562845;178562844;178562843 | chr2:179427572;179427571;179427570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1161650945  |
-1.503 | 0.998 | D | 0.667 | 0.759 | 0.802419757478 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| V/A | rs1161650945 |
-1.503 | 0.998 | D | 0.667 | 0.759 | 0.802419757478 | gnomAD-4.0.0 | 1.59317E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43373E-05 | 0 |
| V/I | rs1390356312 |
-0.766 | 0.767 | D | 0.553 | 0.448 | 0.674361373495 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| V/I | rs1390356312 |
-0.766 | 0.767 | D | 0.553 | 0.448 | 0.674361373495 | gnomAD-4.0.0 | 1.36917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99721E-07 | 1.1602E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9816 | likely_pathogenic | 0.9805 | pathogenic | -1.883 | Destabilizing | 0.998 | D | 0.667 | neutral | D | 0.625483275 | None | None | N |
| V/C | 0.9876 | likely_pathogenic | 0.9884 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.014 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.626088688 | None | None | N |
| V/E | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| V/F | 0.979 | likely_pathogenic | 0.9807 | pathogenic | -1.405 | Destabilizing | 0.999 | D | 0.777 | deleterious | D | 0.6417348 | None | None | N |
| V/G | 0.9821 | likely_pathogenic | 0.982 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.642340213 | None | None | N |
| V/H | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| V/I | 0.1544 | likely_benign | 0.165 | benign | -0.921 | Destabilizing | 0.767 | D | 0.553 | neutral | D | 0.530109225 | None | None | N |
| V/K | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| V/L | 0.9395 | likely_pathogenic | 0.9402 | pathogenic | -0.921 | Destabilizing | 0.981 | D | 0.693 | prob.neutral | D | 0.639716758 | None | None | N |
| V/M | 0.9584 | likely_pathogenic | 0.9615 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/N | 0.9952 | likely_pathogenic | 0.9959 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| V/P | 0.9959 | likely_pathogenic | 0.9962 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/Q | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -1.611 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| V/R | 0.9966 | likely_pathogenic | 0.997 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| V/S | 0.9904 | likely_pathogenic | 0.9901 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/T | 0.9795 | likely_pathogenic | 0.9812 | pathogenic | -1.917 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.626 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/Y | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.786 | 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.