Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16102 | 48529;48530;48531 | chr2:178616487;178616486;178616485 | chr2:179481214;179481213;179481212 |
| N2AB | 14461 | 43606;43607;43608 | chr2:178616487;178616486;178616485 | chr2:179481214;179481213;179481212 |
| N2A | 13534 | 40825;40826;40827 | chr2:178616487;178616486;178616485 | chr2:179481214;179481213;179481212 |
| N2B | 7037 | 21334;21335;21336 | chr2:178616487;178616486;178616485 | chr2:179481214;179481213;179481212 |
| Novex-1 | 7162 | 21709;21710;21711 | chr2:178616487;178616486;178616485 | chr2:179481214;179481213;179481212 |
| Novex-2 | 7229 | 21910;21911;21912 | chr2:178616487;178616486;178616485 | chr2:179481214;179481213;179481212 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1177161673  |
-0.999 | 0.99 | D | 0.738 | 0.539 | 0.70605563185 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| W/R | rs1177161673 |
-0.999 | 0.99 | D | 0.738 | 0.539 | 0.70605563185 | gnomAD-4.0.0 | 1.36972E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8004E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9777 | likely_pathogenic | 0.9747 | pathogenic | -2.771 | Highly Destabilizing | 0.754 | D | 0.635 | neutral | None | None | None | None | N |
| W/C | 0.9915 | likely_pathogenic | 0.9892 | pathogenic | -1.181 | Destabilizing | 0.032 | N | 0.361 | neutral | D | 0.609317976 | None | None | N |
| W/D | 0.995 | likely_pathogenic | 0.994 | pathogenic | -0.874 | Destabilizing | 0.993 | D | 0.748 | deleterious | None | None | None | None | N |
| W/E | 0.9966 | likely_pathogenic | 0.9958 | pathogenic | -0.802 | Destabilizing | 0.993 | D | 0.745 | deleterious | None | None | None | None | N |
| W/F | 0.6184 | likely_pathogenic | 0.5924 | pathogenic | -1.787 | Destabilizing | 0.978 | D | 0.557 | neutral | None | None | None | None | N |
| W/G | 0.9552 | likely_pathogenic | 0.9464 | pathogenic | -2.967 | Highly Destabilizing | 0.942 | D | 0.619 | neutral | D | 0.71756923 | None | None | N |
| W/H | 0.987 | likely_pathogenic | 0.9852 | pathogenic | -1.284 | Destabilizing | 0.998 | D | 0.674 | neutral | None | None | None | None | N |
| W/I | 0.9803 | likely_pathogenic | 0.9727 | pathogenic | -2.084 | Highly Destabilizing | 0.956 | D | 0.753 | deleterious | None | None | None | None | N |
| W/K | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -1.225 | Destabilizing | 0.978 | D | 0.747 | deleterious | None | None | None | None | N |
| W/L | 0.9309 | likely_pathogenic | 0.9233 | pathogenic | -2.084 | Highly Destabilizing | 0.698 | D | 0.581 | neutral | D | 0.700322831 | None | None | N |
| W/M | 0.9779 | likely_pathogenic | 0.9714 | pathogenic | -1.58 | Destabilizing | 0.998 | D | 0.632 | neutral | None | None | None | None | N |
| W/N | 0.9913 | likely_pathogenic | 0.9895 | pathogenic | -1.445 | Destabilizing | 0.993 | D | 0.728 | prob.delet. | None | None | None | None | N |
| W/P | 0.9883 | likely_pathogenic | 0.9865 | pathogenic | -2.325 | Highly Destabilizing | 0.993 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/Q | 0.998 | likely_pathogenic | 0.997 | pathogenic | -1.466 | Destabilizing | 0.993 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/R | 0.9971 | likely_pathogenic | 0.9961 | pathogenic | -0.644 | Destabilizing | 0.99 | D | 0.738 | prob.delet. | D | 0.702576734 | None | None | N |
| W/S | 0.9602 | likely_pathogenic | 0.9532 | pathogenic | -2.035 | Highly Destabilizing | 0.942 | D | 0.751 | deleterious | D | 0.676558668 | None | None | N |
| W/T | 0.9808 | likely_pathogenic | 0.977 | pathogenic | -1.921 | Destabilizing | 0.956 | D | 0.657 | neutral | None | None | None | None | N |
| W/V | 0.9673 | likely_pathogenic | 0.9587 | pathogenic | -2.325 | Highly Destabilizing | 0.915 | D | 0.741 | deleterious | None | None | None | None | N |
| W/Y | 0.7802 | likely_pathogenic | 0.7608 | pathogenic | -1.569 | Destabilizing | 0.993 | D | 0.547 | neutral | 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.