Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17048 | 51367;51368;51369 | chr2:178610384;178610383;178610382 | chr2:179475111;179475110;179475109 |
| N2AB | 15407 | 46444;46445;46446 | chr2:178610384;178610383;178610382 | chr2:179475111;179475110;179475109 |
| N2A | 14480 | 43663;43664;43665 | chr2:178610384;178610383;178610382 | chr2:179475111;179475110;179475109 |
| N2B | 7983 | 24172;24173;24174 | chr2:178610384;178610383;178610382 | chr2:179475111;179475110;179475109 |
| Novex-1 | 8108 | 24547;24548;24549 | chr2:178610384;178610383;178610382 | chr2:179475111;179475110;179475109 |
| Novex-2 | 8175 | 24748;24749;24750 | chr2:178610384;178610383;178610382 | chr2:179475111;179475110;179475109 |
| 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/A | None | None | 1.0 | D | 0.745 | 0.83 | 0.725936817495 | gnomAD-4.0.0 | 6.86911E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00742E-07 | 0 | 0 |
| P/L | rs747934823  |
-1.127 | 1.0 | D | 0.792 | 0.812 | 0.873668589154 | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.44E-05 | None | 0 | 1.8E-05 | 0 |
| P/L | rs747934823 |
-1.127 | 1.0 | D | 0.792 | 0.812 | 0.873668589154 | gnomAD-4.0.0 | 3.21117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87071E-06 | 1.4661E-05 | 0 |
| P/R | rs747934823 |
None | 1.0 | D | 0.816 | 0.82 | 0.785157171476 | gnomAD-4.0.0 | 1.60558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4661E-05 | 0 |
| P/S | rs769444545 |
-2.848 | 1.0 | D | 0.785 | 0.838 | None | gnomAD-2.1.1 | 7.27E-06 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.9E-06 | 0 |
| P/S | rs769444545 |
-2.848 | 1.0 | D | 0.785 | 0.838 | None | 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 |
| P/S | rs769444545 |
-2.848 | 1.0 | D | 0.785 | 0.838 | None | gnomAD-4.0.0 | 4.35393E-06 | None | None | None | None | N | None | 1.34419E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24401E-06 | 0 | 1.60823E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9228 | likely_pathogenic | 0.9136 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.75565066 | None | None | N |
| P/C | 0.9948 | likely_pathogenic | 0.9923 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.633 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -2.536 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/G | 0.9957 | likely_pathogenic | 0.9948 | pathogenic | -2.364 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/H | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.788382287 | None | None | N |
| P/I | 0.996 | likely_pathogenic | 0.9951 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/L | 0.9824 | likely_pathogenic | 0.9807 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.75550536 | None | None | N |
| P/M | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/Q | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/R | 0.9972 | likely_pathogenic | 0.9963 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.75550536 | None | None | N |
| P/S | 0.9909 | likely_pathogenic | 0.9848 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.755415762 | None | None | N |
| P/T | 0.9882 | likely_pathogenic | 0.9855 | pathogenic | -1.954 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.75550536 | None | None | N |
| P/V | 0.9862 | likely_pathogenic | 0.9831 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.782 | 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.