Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23612 | 71059;71060;71061 | chr2:178575298;178575297;178575296 | chr2:179440025;179440024;179440023 |
| N2AB | 21971 | 66136;66137;66138 | chr2:178575298;178575297;178575296 | chr2:179440025;179440024;179440023 |
| N2A | 21044 | 63355;63356;63357 | chr2:178575298;178575297;178575296 | chr2:179440025;179440024;179440023 |
| N2B | 14547 | 43864;43865;43866 | chr2:178575298;178575297;178575296 | chr2:179440025;179440024;179440023 |
| Novex-1 | 14672 | 44239;44240;44241 | chr2:178575298;178575297;178575296 | chr2:179440025;179440024;179440023 |
| Novex-2 | 14739 | 44440;44441;44442 | chr2:178575298;178575297;178575296 | chr2:179440025;179440024;179440023 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | D | 0.891 | 0.753 | 0.807260127471 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85917E-06 | 0 | 0 |
| G/V | rs1273610292  |
-0.183 | 1.0 | D | 0.873 | 0.766 | 0.863010096798 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1273610292 |
-0.183 | 1.0 | D | 0.873 | 0.766 | 0.863010096798 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1273610292 |
-0.183 | 1.0 | D | 0.873 | 0.766 | 0.863010096798 | gnomAD-4.0.0 | 2.56344E-06 | None | None | None | None | I | None | 0 | 1.69543E-05 | None | 0 | 0 | None | 0 | 0 | 2.39376E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8163 | likely_pathogenic | 0.8597 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.536210567 | None | None | I |
| G/C | 0.9276 | likely_pathogenic | 0.9521 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/D | 0.9662 | likely_pathogenic | 0.9771 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| G/E | 0.9684 | likely_pathogenic | 0.9803 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.570444068 | None | None | I |
| G/F | 0.9861 | likely_pathogenic | 0.9898 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/H | 0.983 | likely_pathogenic | 0.9897 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/I | 0.985 | likely_pathogenic | 0.9886 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/K | 0.9746 | likely_pathogenic | 0.9846 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/L | 0.9794 | likely_pathogenic | 0.9851 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/M | 0.9866 | likely_pathogenic | 0.9906 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/N | 0.963 | likely_pathogenic | 0.9758 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/P | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/Q | 0.9578 | likely_pathogenic | 0.9732 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/R | 0.941 | likely_pathogenic | 0.9607 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.559341252 | None | None | I |
| G/S | 0.7089 | likely_pathogenic | 0.7829 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/T | 0.9388 | likely_pathogenic | 0.9585 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/V | 0.9617 | likely_pathogenic | 0.9722 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.548073852 | None | None | I |
| G/W | 0.9829 | likely_pathogenic | 0.9879 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.571711515 | None | None | I |
| G/Y | 0.9826 | likely_pathogenic | 0.9876 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
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.