Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26604 | 80035;80036;80037 | chr2:178566322;178566321;178566320 | chr2:179431049;179431048;179431047 |
| N2AB | 24963 | 75112;75113;75114 | chr2:178566322;178566321;178566320 | chr2:179431049;179431048;179431047 |
| N2A | 24036 | 72331;72332;72333 | chr2:178566322;178566321;178566320 | chr2:179431049;179431048;179431047 |
| N2B | 17539 | 52840;52841;52842 | chr2:178566322;178566321;178566320 | chr2:179431049;179431048;179431047 |
| Novex-1 | 17664 | 53215;53216;53217 | chr2:178566322;178566321;178566320 | chr2:179431049;179431048;179431047 |
| Novex-2 | 17731 | 53416;53417;53418 | chr2:178566322;178566321;178566320 | chr2:179431049;179431048;179431047 |
| 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/I | rs190407944  |
-0.564 | 0.067 | N | 0.321 | 0.218 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs190407944 |
-0.564 | 0.067 | N | 0.321 | 0.218 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs190407944 |
-0.564 | 0.067 | N | 0.321 | 0.218 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/I | rs190407944 |
-0.564 | 0.067 | N | 0.321 | 0.218 | None | gnomAD-4.0.0 | 1.23944E-06 | None | None | None | None | N | None | 1.33298E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47688E-07 | 0 | 0 |
| V/L | rs190407944 |
-0.582 | 0.618 | N | 0.483 | 0.416 | 0.656879027039 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/L | rs190407944 |
-0.582 | 0.618 | N | 0.483 | 0.416 | 0.656879027039 | gnomAD-4.0.0 | 6.84273E-07 | None | None | None | None | N | None | 0 | 2.23614E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6782 | likely_pathogenic | 0.6775 | pathogenic | -1.551 | Destabilizing | 0.958 | D | 0.467 | neutral | N | 0.49249732 | None | None | N |
| V/C | 0.8779 | likely_pathogenic | 0.88 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| V/D | 0.9904 | likely_pathogenic | 0.9888 | pathogenic | -1.232 | Destabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | N |
| V/E | 0.9621 | likely_pathogenic | 0.9558 | pathogenic | -1.209 | Destabilizing | 0.998 | D | 0.696 | prob.neutral | D | 0.542093733 | None | None | N |
| V/F | 0.5959 | likely_pathogenic | 0.5686 | pathogenic | -1.114 | Destabilizing | 0.991 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/G | 0.8325 | likely_pathogenic | 0.8351 | pathogenic | -1.893 | Destabilizing | 0.994 | D | 0.733 | prob.delet. | D | 0.541840243 | None | None | N |
| V/H | 0.9833 | likely_pathogenic | 0.9805 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/I | 0.0928 | likely_benign | 0.0898 | benign | -0.705 | Destabilizing | 0.067 | N | 0.321 | neutral | N | 0.514111211 | None | None | N |
| V/K | 0.9649 | likely_pathogenic | 0.9603 | pathogenic | -1.282 | Destabilizing | 0.995 | D | 0.701 | prob.neutral | None | None | None | None | N |
| V/L | 0.4243 | ambiguous | 0.3945 | ambiguous | -0.705 | Destabilizing | 0.618 | D | 0.483 | neutral | N | 0.491980796 | None | None | N |
| V/M | 0.4416 | ambiguous | 0.425 | ambiguous | -0.63 | Destabilizing | 0.991 | D | 0.766 | deleterious | None | None | None | None | N |
| V/N | 0.9625 | likely_pathogenic | 0.9568 | pathogenic | -1.116 | Destabilizing | 0.998 | D | 0.759 | deleterious | None | None | None | None | N |
| V/P | 0.9887 | likely_pathogenic | 0.9888 | pathogenic | -0.952 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9289 | likely_pathogenic | 0.9213 | pathogenic | -1.249 | Destabilizing | 0.998 | D | 0.718 | prob.delet. | None | None | None | None | N |
| V/R | 0.9419 | likely_pathogenic | 0.9364 | pathogenic | -0.819 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| V/S | 0.866 | likely_pathogenic | 0.8641 | pathogenic | -1.699 | Destabilizing | 0.995 | D | 0.704 | prob.neutral | None | None | None | None | N |
| V/T | 0.7157 | likely_pathogenic | 0.7224 | pathogenic | -1.562 | Destabilizing | 0.968 | D | 0.651 | neutral | None | None | None | None | N |
| V/W | 0.9841 | likely_pathogenic | 0.983 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| V/Y | 0.9457 | likely_pathogenic | 0.9407 | pathogenic | -1.01 | Destabilizing | 0.995 | D | 0.742 | 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.