Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32738 | 98437;98438;98439 | chr2:178539853;178539852;178539851 | chr2:179404580;179404579;179404578 |
| N2AB | 31097 | 93514;93515;93516 | chr2:178539853;178539852;178539851 | chr2:179404580;179404579;179404578 |
| N2A | 30170 | 90733;90734;90735 | chr2:178539853;178539852;178539851 | chr2:179404580;179404579;179404578 |
| N2B | 23673 | 71242;71243;71244 | chr2:178539853;178539852;178539851 | chr2:179404580;179404579;179404578 |
| Novex-1 | 23798 | 71617;71618;71619 | chr2:178539853;178539852;178539851 | chr2:179404580;179404579;179404578 |
| Novex-2 | 23865 | 71818;71819;71820 | chr2:178539853;178539852;178539851 | chr2:179404580;179404579;179404578 |
| 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/C | rs764039252  |
-2.227 | 1.0 | D | 0.807 | 0.696 | 0.887305418718 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| W/R | None | None | 1.0 | D | 0.873 | 0.92 | 0.930611013341 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9965 | likely_pathogenic | 0.9967 | pathogenic | -3.048 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/C | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.07 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.681938469 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.456 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.336 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/F | 0.7178 | likely_pathogenic | 0.7086 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/G | 0.9889 | likely_pathogenic | 0.9898 | pathogenic | -3.294 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.681736664 | None | None | N |
| W/H | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -2.353 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/I | 0.9752 | likely_pathogenic | 0.9741 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.699 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/L | 0.9557 | likely_pathogenic | 0.9552 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.681736664 | None | None | N |
| W/M | 0.9892 | likely_pathogenic | 0.9887 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.448 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.448 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.237 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.517 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.681938469 | None | None | N |
| W/S | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -3.6 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.681938469 | None | None | N |
| W/T | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -3.405 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/V | 0.985 | likely_pathogenic | 0.9843 | pathogenic | -2.448 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/Y | 0.9351 | likely_pathogenic | 0.932 | pathogenic | -1.851 | Destabilizing | 1.0 | D | 0.84 | 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.