Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25677 | 77254;77255;77256 | chr2:178569103;178569102;178569101 | chr2:179433830;179433829;179433828 |
| N2AB | 24036 | 72331;72332;72333 | chr2:178569103;178569102;178569101 | chr2:179433830;179433829;179433828 |
| N2A | 23109 | 69550;69551;69552 | chr2:178569103;178569102;178569101 | chr2:179433830;179433829;179433828 |
| N2B | 16612 | 50059;50060;50061 | chr2:178569103;178569102;178569101 | chr2:179433830;179433829;179433828 |
| Novex-1 | 16737 | 50434;50435;50436 | chr2:178569103;178569102;178569101 | chr2:179433830;179433829;179433828 |
| Novex-2 | 16804 | 50635;50636;50637 | chr2:178569103;178569102;178569101 | chr2:179433830;179433829;179433828 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | None | None | 1.0 | D | 0.709 | 0.637 | None | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 5.66444E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.932 | likely_pathogenic | 0.9364 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/D | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.07 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.578321334 | None | None | N |
| A/E | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -2.864 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/F | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/G | 0.3321 | likely_benign | 0.3593 | ambiguous | -2.189 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.51632234 | None | None | N |
| A/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/I | 0.991 | likely_pathogenic | 0.9919 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/L | 0.9646 | likely_pathogenic | 0.9668 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/M | 0.9844 | likely_pathogenic | 0.9857 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/N | 0.9974 | likely_pathogenic | 0.9977 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/P | 0.8607 | likely_pathogenic | 0.8897 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.528123173 | None | None | N |
| A/Q | 0.9958 | likely_pathogenic | 0.9961 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/R | 0.9975 | likely_pathogenic | 0.9977 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/S | 0.4856 | ambiguous | 0.51 | ambiguous | -2.313 | Highly Destabilizing | 1.0 | D | 0.609 | neutral | D | 0.52647365 | None | None | N |
| A/T | 0.9077 | likely_pathogenic | 0.9162 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.551388307 | None | None | N |
| A/V | 0.9358 | likely_pathogenic | 0.9439 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.557935673 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/Y | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.868 | 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.