Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29634 | 89125;89126;89127 | chr2:178554211;178554210;178554209 | chr2:179418938;179418937;179418936 |
| N2AB | 27993 | 84202;84203;84204 | chr2:178554211;178554210;178554209 | chr2:179418938;179418937;179418936 |
| N2A | 27066 | 81421;81422;81423 | chr2:178554211;178554210;178554209 | chr2:179418938;179418937;179418936 |
| N2B | 20569 | 61930;61931;61932 | chr2:178554211;178554210;178554209 | chr2:179418938;179418937;179418936 |
| Novex-1 | 20694 | 62305;62306;62307 | chr2:178554211;178554210;178554209 | chr2:179418938;179418937;179418936 |
| Novex-2 | 20761 | 62506;62507;62508 | chr2:178554211;178554210;178554209 | chr2:179418938;179418937;179418936 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1559226382  |
None | 0.999 | N | 0.841 | 0.487 | 0.498387242485 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs1559226382 |
None | 0.999 | N | 0.841 | 0.487 | 0.498387242485 | gnomAD-4.0.0 | 1.31456E-05 | None | None | None | None | N | None | 4.82532E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.863 | 0.541 | 0.79525928793 | gnomAD-4.0.0 | 2.40079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62514E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.807 | 0.516 | 0.55767489547 | gnomAD-4.0.0 | 1.6715E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.5649E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5692 | likely_pathogenic | 0.6233 | pathogenic | -1.639 | Destabilizing | 0.999 | D | 0.841 | deleterious | N | 0.521680121 | None | None | N |
| P/C | 0.9742 | likely_pathogenic | 0.9782 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.999 | pathogenic | -3.317 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -3.232 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/G | 0.9828 | likely_pathogenic | 0.9856 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/H | 0.9961 | likely_pathogenic | 0.9966 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.563764435 | None | None | N |
| P/I | 0.9892 | likely_pathogenic | 0.991 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/L | 0.9597 | likely_pathogenic | 0.9664 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.534731494 | None | None | N |
| P/M | 0.9933 | likely_pathogenic | 0.9945 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/N | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/Q | 0.9937 | likely_pathogenic | 0.9945 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/R | 0.9933 | likely_pathogenic | 0.9939 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.551647661 | None | None | N |
| P/S | 0.9244 | likely_pathogenic | 0.9376 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.562750477 | None | None | N |
| P/T | 0.9354 | likely_pathogenic | 0.9427 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.551140682 | None | None | N |
| P/V | 0.953 | likely_pathogenic | 0.9623 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.863 | 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.