Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26122 | 78589;78590;78591 | chr2:178567768;178567767;178567766 | chr2:179432495;179432494;179432493 |
| N2AB | 24481 | 73666;73667;73668 | chr2:178567768;178567767;178567766 | chr2:179432495;179432494;179432493 |
| N2A | 23554 | 70885;70886;70887 | chr2:178567768;178567767;178567766 | chr2:179432495;179432494;179432493 |
| N2B | 17057 | 51394;51395;51396 | chr2:178567768;178567767;178567766 | chr2:179432495;179432494;179432493 |
| Novex-1 | 17182 | 51769;51770;51771 | chr2:178567768;178567767;178567766 | chr2:179432495;179432494;179432493 |
| Novex-2 | 17249 | 51970;51971;51972 | chr2:178567768;178567767;178567766 | chr2:179432495;179432494;179432493 |
| 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 | rs771589854  |
-2.224 | 1.0 | N | 0.835 | 0.607 | 0.481543764896 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.83E-06 | 1.40607E-04 |
| G/D | rs771589854 |
-2.224 | 1.0 | N | 0.835 | 0.607 | 0.481543764896 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| G/D | rs771589854 |
-2.224 | 1.0 | N | 0.835 | 0.607 | 0.481543764896 | gnomAD-4.0.0 | 3.84491E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.3941E-06 | 2.68068E-05 | 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 | 0.5833 | likely_pathogenic | 0.5576 | ambiguous | -0.709 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.496071815 | None | None | N |
| G/C | 0.8794 | likely_pathogenic | 0.8635 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.517102586 | None | None | N |
| G/D | 0.9902 | likely_pathogenic | 0.9889 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.500591266 | None | None | N |
| G/E | 0.9893 | likely_pathogenic | 0.9877 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/F | 0.9944 | likely_pathogenic | 0.9931 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/H | 0.9882 | likely_pathogenic | 0.9861 | pathogenic | -1.462 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/I | 0.9932 | likely_pathogenic | 0.9922 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/K | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/L | 0.9912 | likely_pathogenic | 0.9894 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/M | 0.9908 | likely_pathogenic | 0.9881 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/N | 0.9673 | likely_pathogenic | 0.9605 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/Q | 0.9819 | likely_pathogenic | 0.9786 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/R | 0.9846 | likely_pathogenic | 0.9826 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.492197475 | None | None | N |
| G/S | 0.4504 | ambiguous | 0.4308 | ambiguous | -1.312 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.473470882 | None | None | N |
| G/T | 0.9213 | likely_pathogenic | 0.9086 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/V | 0.9794 | likely_pathogenic | 0.9763 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.543093653 | None | None | N |
| G/W | 0.9905 | likely_pathogenic | 0.9885 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/Y | 0.9867 | likely_pathogenic | 0.9834 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.852 | 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.