Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3203 | 9832;9833;9834 | chr2:178766477;178766476;178766475 | chr2:179631204;179631203;179631202 |
| N2AB | 3203 | 9832;9833;9834 | chr2:178766477;178766476;178766475 | chr2:179631204;179631203;179631202 |
| N2A | 3203 | 9832;9833;9834 | chr2:178766477;178766476;178766475 | chr2:179631204;179631203;179631202 |
| N2B | 3157 | 9694;9695;9696 | chr2:178766477;178766476;178766475 | chr2:179631204;179631203;179631202 |
| Novex-1 | 3157 | 9694;9695;9696 | chr2:178766477;178766476;178766475 | chr2:179631204;179631203;179631202 |
| Novex-2 | 3157 | 9694;9695;9696 | chr2:178766477;178766476;178766475 | chr2:179631204;179631203;179631202 |
| Novex-3 | 3203 | 9832;9833;9834 | chr2:178766477;178766476;178766475 | chr2:179631204;179631203;179631202 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | rs779624746  |
-1.29 | 1.0 | D | 0.751 | 0.498 | 0.552822141497 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| H/Q | rs779624746 |
-1.29 | 1.0 | D | 0.751 | 0.498 | 0.552822141497 | gnomAD-4.0.0 | 6.84082E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| H/Y | rs753075855 |
0.157 | 0.999 | D | 0.648 | 0.541 | 0.462287137294 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Y | rs753075855 |
0.157 | 0.999 | D | 0.648 | 0.541 | 0.462287137294 | gnomAD-4.0.0 | 1.3682E-06 | None | None | None | None | N | None | 2.98704E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99331E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.9937 | likely_pathogenic | 0.9907 | pathogenic | -2.333 | Highly Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| H/C | 0.9004 | likely_pathogenic | 0.8549 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| H/D | 0.9957 | likely_pathogenic | 0.9958 | pathogenic | -2.452 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.647066712 | None | None | N |
| H/E | 0.9962 | likely_pathogenic | 0.9951 | pathogenic | -2.227 | Highly Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| H/F | 0.9688 | likely_pathogenic | 0.9455 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| H/G | 0.996 | likely_pathogenic | 0.9937 | pathogenic | -2.724 | Highly Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| H/I | 0.9942 | likely_pathogenic | 0.9915 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| H/K | 0.993 | likely_pathogenic | 0.9922 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| H/L | 0.9371 | likely_pathogenic | 0.9092 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.645879999 | None | None | N |
| H/M | 0.9933 | likely_pathogenic | 0.9903 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| H/N | 0.9406 | likely_pathogenic | 0.9402 | pathogenic | -2.222 | Highly Destabilizing | 0.999 | D | 0.631 | neutral | D | 0.607854246 | None | None | N |
| H/P | 0.9928 | likely_pathogenic | 0.9905 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.648695122 | None | None | N |
| H/Q | 0.9763 | likely_pathogenic | 0.9723 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.606050862 | None | None | N |
| H/R | 0.9777 | likely_pathogenic | 0.972 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.503232209 | None | None | N |
| H/S | 0.9804 | likely_pathogenic | 0.9761 | pathogenic | -2.412 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| H/T | 0.9954 | likely_pathogenic | 0.9938 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| H/V | 0.9917 | likely_pathogenic | 0.9867 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| H/W | 0.9697 | likely_pathogenic | 0.9504 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| H/Y | 0.8862 | likely_pathogenic | 0.8293 | pathogenic | -0.219 | Destabilizing | 0.999 | D | 0.648 | neutral | D | 0.59920945 | 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.