Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10101 | 30526;30527;30528 | chr2:178702586;178702585;178702584 | chr2:179567313;179567312;179567311 |
| N2AB | 9784 | 29575;29576;29577 | chr2:178702586;178702585;178702584 | chr2:179567313;179567312;179567311 |
| N2A | 8857 | 26794;26795;26796 | chr2:178702586;178702585;178702584 | chr2:179567313;179567312;179567311 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | None | None | 0.997 | None | 0.616 | 0.426 | 0.588172243141 | gnomAD-4.0.0 | 6.84133E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99392E-07 | 0 | 0 |
| V/M | None | None | 1.0 | None | 0.778 | 0.578 | 0.640176730838 | gnomAD-4.0.0 | 6.84133E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99392E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9766 | likely_pathogenic | 0.9839 | pathogenic | -2.276 | Highly Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| V/C | 0.9935 | likely_pathogenic | 0.9954 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| V/D | 0.9972 | likely_pathogenic | 0.998 | pathogenic | -3.255 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/E | 0.9951 | likely_pathogenic | 0.9962 | pathogenic | -3.035 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/F | 0.9744 | likely_pathogenic | 0.981 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/G | 0.9647 | likely_pathogenic | 0.9717 | pathogenic | -2.752 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/H | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.377 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/I | 0.3378 | likely_benign | 0.4143 | ambiguous | -0.915 | Destabilizing | 0.998 | D | 0.535 | neutral | None | None | None | None | N |
| V/K | 0.9963 | likely_pathogenic | 0.9967 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/L | 0.9416 | likely_pathogenic | 0.9548 | pathogenic | -0.915 | Destabilizing | 0.997 | D | 0.616 | neutral | None | None | None | None | N |
| V/M | 0.9521 | likely_pathogenic | 0.9651 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| V/N | 0.9911 | likely_pathogenic | 0.9934 | pathogenic | -2.253 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/P | 0.9969 | likely_pathogenic | 0.9979 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/Q | 0.9972 | likely_pathogenic | 0.9977 | pathogenic | -2.037 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/R | 0.995 | likely_pathogenic | 0.9953 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/S | 0.9877 | likely_pathogenic | 0.9905 | pathogenic | -2.732 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/T | 0.9526 | likely_pathogenic | 0.9648 | pathogenic | -2.394 | Highly Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| V/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/Y | 0.9964 | likely_pathogenic | 0.9971 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.828 | 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.