Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15746 | 47461;47462;47463 | chr2:178618222;178618221;178618220 | chr2:179482949;179482948;179482947 |
| N2AB | 14105 | 42538;42539;42540 | chr2:178618222;178618221;178618220 | chr2:179482949;179482948;179482947 |
| N2A | 13178 | 39757;39758;39759 | chr2:178618222;178618221;178618220 | chr2:179482949;179482948;179482947 |
| N2B | 6681 | 20266;20267;20268 | chr2:178618222;178618221;178618220 | chr2:179482949;179482948;179482947 |
| Novex-1 | 6806 | 20641;20642;20643 | chr2:178618222;178618221;178618220 | chr2:179482949;179482948;179482947 |
| Novex-2 | 6873 | 20842;20843;20844 | chr2:178618222;178618221;178618220 | chr2:179482949;179482948;179482947 |
| 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/N | rs750298764  |
-1.144 | 0.999 | N | 0.799 | 0.289 | 0.455448229734 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/N | rs750298764 |
-1.144 | 0.999 | N | 0.799 | 0.289 | 0.455448229734 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs750298764 |
-1.144 | 0.999 | N | 0.799 | 0.289 | 0.455448229734 | gnomAD-4.0.0 | 2.56574E-06 | None | None | None | None | N | None | 0 | 3.39363E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs750298764 |
-1.258 | 0.997 | N | 0.683 | 0.195 | 0.222439326576 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs750298764 |
-1.258 | 0.997 | N | 0.683 | 0.195 | 0.222439326576 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs750298764 |
-1.258 | 0.997 | N | 0.683 | 0.195 | 0.222439326576 | gnomAD-4.0.0 | 2.56574E-06 | None | None | None | None | N | None | 1.69394E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39661E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.3984 | ambiguous | 0.3188 | benign | -0.895 | Destabilizing | 0.997 | D | 0.689 | prob.delet. | N | 0.47333461 | None | None | N |
| T/C | 0.8256 | likely_pathogenic | 0.6982 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| T/D | 0.9237 | likely_pathogenic | 0.8898 | pathogenic | -0.784 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| T/E | 0.914 | likely_pathogenic | 0.8795 | pathogenic | -0.643 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| T/F | 0.8877 | likely_pathogenic | 0.8279 | pathogenic | -0.527 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| T/G | 0.6871 | likely_pathogenic | 0.6 | pathogenic | -1.291 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| T/H | 0.9127 | likely_pathogenic | 0.8708 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| T/I | 0.6214 | likely_pathogenic | 0.5192 | ambiguous | 0.117 | Stabilizing | 0.999 | D | 0.859 | deleterious | N | 0.468120946 | None | None | N |
| T/K | 0.8934 | likely_pathogenic | 0.8469 | pathogenic | -0.682 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| T/L | 0.3717 | ambiguous | 0.2606 | benign | 0.117 | Stabilizing | 0.998 | D | 0.778 | deleterious | None | None | None | None | N |
| T/M | 0.2427 | likely_benign | 0.1971 | benign | 0.098 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| T/N | 0.5876 | likely_pathogenic | 0.5109 | ambiguous | -1.062 | Destabilizing | 0.999 | D | 0.799 | deleterious | N | 0.4952873 | None | None | N |
| T/P | 0.8651 | likely_pathogenic | 0.8324 | pathogenic | -0.186 | Destabilizing | 0.999 | D | 0.84 | deleterious | N | 0.464264242 | None | None | N |
| T/Q | 0.8796 | likely_pathogenic | 0.8296 | pathogenic | -0.916 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| T/R | 0.8864 | likely_pathogenic | 0.8452 | pathogenic | -0.799 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| T/S | 0.3886 | ambiguous | 0.3228 | benign | -1.316 | Destabilizing | 0.997 | D | 0.683 | prob.neutral | N | 0.469147849 | None | None | N |
| T/V | 0.5035 | ambiguous | 0.3986 | ambiguous | -0.186 | Destabilizing | 0.998 | D | 0.742 | deleterious | None | None | None | None | N |
| T/W | 0.9717 | likely_pathogenic | 0.9536 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| T/Y | 0.9263 | likely_pathogenic | 0.8757 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.887 | 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.