Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20491 | 61696;61697;61698 | chr2:178590254;178590253;178590252 | chr2:179454981;179454980;179454979 |
| N2AB | 18850 | 56773;56774;56775 | chr2:178590254;178590253;178590252 | chr2:179454981;179454980;179454979 |
| N2A | 17923 | 53992;53993;53994 | chr2:178590254;178590253;178590252 | chr2:179454981;179454980;179454979 |
| N2B | 11426 | 34501;34502;34503 | chr2:178590254;178590253;178590252 | chr2:179454981;179454980;179454979 |
| Novex-1 | 11551 | 34876;34877;34878 | chr2:178590254;178590253;178590252 | chr2:179454981;179454980;179454979 |
| Novex-2 | 11618 | 35077;35078;35079 | chr2:178590254;178590253;178590252 | chr2:179454981;179454980;179454979 |
| 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/A | None | None | 1.0 | D | 0.801 | 0.748 | 0.712639473574 | gnomAD-4.0.0 | 6.98714E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.11506E-07 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.907 | 0.759 | 0.893286138527 | gnomAD-4.0.0 | 6.98643E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.11411E-07 | 0 | 0 |
| G/S | rs1341970631  |
-0.884 | 1.0 | D | 0.877 | 0.733 | 0.708053928561 | gnomAD-2.1.1 | 4.49E-06 | None | None | None | None | N | None | 0 | 3.16E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1341970631 |
-0.884 | 1.0 | D | 0.877 | 0.733 | 0.708053928561 | gnomAD-4.0.0 | 6.98643E-07 | None | None | None | None | N | None | 0 | 2.38755E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.8001 | likely_pathogenic | 0.8272 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.592715904 | None | None | N |
| G/C | 0.8474 | likely_pathogenic | 0.8631 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.646951351 | None | None | N |
| G/D | 0.8563 | likely_pathogenic | 0.8816 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.573921285 | None | None | N |
| G/E | 0.9367 | likely_pathogenic | 0.9505 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/F | 0.9835 | likely_pathogenic | 0.985 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/H | 0.9498 | likely_pathogenic | 0.9506 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/I | 0.9912 | likely_pathogenic | 0.9929 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/K | 0.969 | likely_pathogenic | 0.9698 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/L | 0.9666 | likely_pathogenic | 0.9696 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/M | 0.9819 | likely_pathogenic | 0.9833 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/N | 0.8189 | likely_pathogenic | 0.8357 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/P | 0.9961 | likely_pathogenic | 0.9966 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/Q | 0.9284 | likely_pathogenic | 0.9323 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| G/R | 0.9388 | likely_pathogenic | 0.9413 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.621009631 | None | None | N |
| G/S | 0.5646 | likely_pathogenic | 0.6041 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.586477819 | None | None | N |
| G/T | 0.9266 | likely_pathogenic | 0.935 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/V | 0.9816 | likely_pathogenic | 0.9851 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.646749547 | None | None | N |
| G/W | 0.9664 | likely_pathogenic | 0.9658 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/Y | 0.9734 | likely_pathogenic | 0.9758 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.877 | 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.