Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1130 | 3613;3614;3615 | chr2:178781256;178781255;178781254 | chr2:179645983;179645982;179645981 |
| N2AB | 1130 | 3613;3614;3615 | chr2:178781256;178781255;178781254 | chr2:179645983;179645982;179645981 |
| N2A | 1130 | 3613;3614;3615 | chr2:178781256;178781255;178781254 | chr2:179645983;179645982;179645981 |
| N2B | 1084 | 3475;3476;3477 | chr2:178781256;178781255;178781254 | chr2:179645983;179645982;179645981 |
| Novex-1 | 1084 | 3475;3476;3477 | chr2:178781256;178781255;178781254 | chr2:179645983;179645982;179645981 |
| Novex-2 | 1084 | 3475;3476;3477 | chr2:178781256;178781255;178781254 | chr2:179645983;179645982;179645981 |
| Novex-3 | 1130 | 3613;3614;3615 | chr2:178781256;178781255;178781254 | chr2:179645983;179645982;179645981 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs762402848  |
-0.06 | 0.898 | N | 0.444 | 0.347 | 0.460264052551 | gnomAD-2.1.1 | 7.17E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 5.8812E-04 | None | 0 | 0 | 0 |
| V/L | rs762402848 |
-0.06 | 0.898 | N | 0.444 | 0.347 | 0.460264052551 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21118E-04 | 0 |
| V/L | rs762402848 |
-0.06 | 0.898 | N | 0.444 | 0.347 | 0.460264052551 | gnomAD-4.0.0 | 3.40808E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.92872E-04 | 1.60072E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7479 | likely_pathogenic | 0.6984 | pathogenic | -1.409 | Destabilizing | 0.977 | D | 0.529 | neutral | N | 0.519262398 | None | None | I |
| V/C | 0.971 | likely_pathogenic | 0.9565 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| V/D | 0.9716 | likely_pathogenic | 0.9663 | pathogenic | -0.909 | Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | I |
| V/E | 0.9141 | likely_pathogenic | 0.9095 | pathogenic | -0.904 | Destabilizing | 0.999 | D | 0.811 | deleterious | N | 0.52013377 | None | None | I |
| V/F | 0.6509 | likely_pathogenic | 0.6108 | pathogenic | -1.103 | Destabilizing | 0.995 | D | 0.839 | deleterious | None | None | None | None | I |
| V/G | 0.8345 | likely_pathogenic | 0.8072 | pathogenic | -1.741 | Destabilizing | 0.999 | D | 0.832 | deleterious | D | 0.554362617 | None | None | I |
| V/H | 0.9782 | likely_pathogenic | 0.9737 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| V/I | 0.1164 | likely_benign | 0.1123 | benign | -0.598 | Destabilizing | 0.15 | N | 0.346 | neutral | None | None | None | None | I |
| V/K | 0.9475 | likely_pathogenic | 0.9402 | pathogenic | -1.076 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | I |
| V/L | 0.5636 | ambiguous | 0.5315 | ambiguous | -0.598 | Destabilizing | 0.898 | D | 0.444 | neutral | N | 0.475680871 | None | None | I |
| V/M | 0.5212 | ambiguous | 0.49 | ambiguous | -0.49 | Destabilizing | 0.993 | D | 0.789 | deleterious | N | 0.465013625 | None | None | I |
| V/N | 0.9181 | likely_pathogenic | 0.9128 | pathogenic | -0.842 | Destabilizing | 0.999 | D | 0.856 | deleterious | None | None | None | None | I |
| V/P | 0.9653 | likely_pathogenic | 0.9595 | pathogenic | -0.832 | Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | I |
| V/Q | 0.9256 | likely_pathogenic | 0.9184 | pathogenic | -0.977 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | I |
| V/R | 0.9386 | likely_pathogenic | 0.9285 | pathogenic | -0.643 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | I |
| V/S | 0.8745 | likely_pathogenic | 0.8571 | pathogenic | -1.437 | Destabilizing | 0.998 | D | 0.817 | deleterious | None | None | None | None | I |
| V/T | 0.7248 | likely_pathogenic | 0.6981 | pathogenic | -1.308 | Destabilizing | 0.983 | D | 0.728 | prob.delet. | None | None | None | None | I |
| V/W | 0.988 | likely_pathogenic | 0.9841 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| V/Y | 0.9377 | likely_pathogenic | 0.9268 | pathogenic | -0.969 | Destabilizing | 0.999 | D | 0.852 | 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.