Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21957 | 66094;66095;66096 | chr2:178582587;178582586;178582585 | chr2:179447314;179447313;179447312 |
| N2AB | 20316 | 61171;61172;61173 | chr2:178582587;178582586;178582585 | chr2:179447314;179447313;179447312 |
| N2A | 19389 | 58390;58391;58392 | chr2:178582587;178582586;178582585 | chr2:179447314;179447313;179447312 |
| N2B | 12892 | 38899;38900;38901 | chr2:178582587;178582586;178582585 | chr2:179447314;179447313;179447312 |
| Novex-1 | 13017 | 39274;39275;39276 | chr2:178582587;178582586;178582585 | chr2:179447314;179447313;179447312 |
| Novex-2 | 13084 | 39475;39476;39477 | chr2:178582587;178582586;178582585 | chr2:179447314;179447313;179447312 |
| 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 | rs879192020  |
-0.534 | 1.0 | D | 0.82 | 0.481 | 0.677981630403 | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.48E-05 | None | 0 | 0 | 0 |
| P/L | rs879192020 |
-0.534 | 1.0 | D | 0.82 | 0.481 | 0.677981630403 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| P/L | rs879192020 |
-0.534 | 1.0 | D | 0.82 | 0.481 | 0.677981630403 | gnomAD-4.0.0 | 1.49606E-05 | None | None | None | None | N | None | 5.36049E-05 | 0 | None | 0 | 2.24014E-05 | None | 1.57134E-05 | 0 | 1.44772E-05 | 1.11694E-05 | 0 |
| P/R | None | None | 1.0 | D | 0.837 | 0.495 | 0.598822425987 | gnomAD-4.0.0 | 6.88611E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03917E-07 | 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 | 0.9621 | likely_pathogenic | 0.9464 | pathogenic | -1.477 | Destabilizing | 0.999 | D | 0.81 | deleterious | D | 0.524440555 | None | None | N |
| P/C | 0.9978 | likely_pathogenic | 0.9964 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.332 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/E | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.268 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/G | 0.9976 | likely_pathogenic | 0.997 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/H | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/I | 0.9976 | likely_pathogenic | 0.9956 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/L | 0.9924 | likely_pathogenic | 0.9877 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.540685159 | None | None | N |
| P/M | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/N | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/Q | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.55169907 | None | None | N |
| P/R | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.55144558 | None | None | N |
| P/S | 0.9981 | likely_pathogenic | 0.9969 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.550431622 | None | None | N |
| P/T | 0.9964 | likely_pathogenic | 0.9942 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.55144558 | None | None | N |
| P/V | 0.9918 | likely_pathogenic | 0.9866 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.843 | 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.