Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14032 | 42319;42320;42321 | chr2:178634780;178634779;178634778 | chr2:179499507;179499506;179499505 |
| N2AB | 12391 | 37396;37397;37398 | chr2:178634780;178634779;178634778 | chr2:179499507;179499506;179499505 |
| N2A | 11464 | 34615;34616;34617 | chr2:178634780;178634779;178634778 | chr2:179499507;179499506;179499505 |
| N2B | 4967 | 15124;15125;15126 | chr2:178634780;178634779;178634778 | chr2:179499507;179499506;179499505 |
| Novex-1 | 5092 | 15499;15500;15501 | chr2:178634780;178634779;178634778 | chr2:179499507;179499506;179499505 |
| Novex-2 | 5159 | 15700;15701;15702 | chr2:178634780;178634779;178634778 | chr2:179499507;179499506;179499505 |
| 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/D | None | None | 1.0 | D | 0.883 | 0.483 | 0.596816321548 | gnomAD-4.0.0 | 1.59272E-06 | None | None | None | None | I | None | 5.67279E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.804 | 0.487 | 0.734072209363 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/S | rs2060219895  |
None | 1.0 | D | 0.814 | 0.531 | 0.543995976431 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs2060219895 |
None | 1.0 | D | 0.814 | 0.531 | 0.543995976431 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | I | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1407857451 |
0.085 | 1.0 | D | 0.763 | 0.488 | 0.762292791373 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 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 | 0.904 | likely_pathogenic | 0.7479 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.729 | deleterious | D | 0.613166643 | None | None | I |
| G/C | 0.9913 | likely_pathogenic | 0.9667 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.738 | deleterious | D | 0.618423327 | None | None | I |
| G/D | 0.9897 | likely_pathogenic | 0.9635 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.656985261 | None | None | I |
| G/E | 0.9952 | likely_pathogenic | 0.9836 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/F | 0.9991 | likely_pathogenic | 0.9976 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.9972 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.733 | deleterious | None | None | None | None | I |
| G/I | 0.999 | likely_pathogenic | 0.997 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/K | 0.9987 | likely_pathogenic | 0.9962 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/L | 0.9981 | likely_pathogenic | 0.9952 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.737 | deleterious | None | None | None | None | I |
| G/M | 0.9989 | likely_pathogenic | 0.9969 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| G/N | 0.9968 | likely_pathogenic | 0.9884 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Q | 0.9963 | likely_pathogenic | 0.9879 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/R | 0.9962 | likely_pathogenic | 0.988 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.657855829 | None | None | I |
| G/S | 0.9386 | likely_pathogenic | 0.8043 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.656457787 | None | None | I |
| G/T | 0.9903 | likely_pathogenic | 0.9719 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/V | 0.9962 | likely_pathogenic | 0.9894 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.657855829 | None | None | I |
| G/W | 0.9987 | likely_pathogenic | 0.9957 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/Y | 0.9992 | likely_pathogenic | 0.9974 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.755 | 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.