Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30791 | 92596;92597;92598 | chr2:178549255;178549254;178549253 | chr2:179413982;179413981;179413980 |
| N2AB | 29150 | 87673;87674;87675 | chr2:178549255;178549254;178549253 | chr2:179413982;179413981;179413980 |
| N2A | 28223 | 84892;84893;84894 | chr2:178549255;178549254;178549253 | chr2:179413982;179413981;179413980 |
| N2B | 21726 | 65401;65402;65403 | chr2:178549255;178549254;178549253 | chr2:179413982;179413981;179413980 |
| Novex-1 | 21851 | 65776;65777;65778 | chr2:178549255;178549254;178549253 | chr2:179413982;179413981;179413980 |
| Novex-2 | 21918 | 65977;65978;65979 | chr2:178549255;178549254;178549253 | chr2:179413982;179413981;179413980 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.877 | 0.917 | 0.810833939436 | gnomAD-4.0.0 | 1.36837E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79885E-06 | 0 | 0 |
| Y/H | rs760556090  |
-2.631 | 1.0 | D | 0.85 | 0.899 | 0.699787150089 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11483E-04 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs760556090 |
-2.631 | 1.0 | D | 0.85 | 0.899 | 0.699787150089 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs760556090 |
-2.631 | 1.0 | D | 0.85 | 0.899 | 0.699787150089 | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92753E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9869 | likely_pathogenic | 0.9864 | pathogenic | -3.181 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/C | 0.8894 | likely_pathogenic | 0.8938 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.659702509 | None | None | N |
| Y/D | 0.9886 | likely_pathogenic | 0.9879 | pathogenic | -3.69 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.66922126 | None | None | N |
| Y/E | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -3.47 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/F | 0.3425 | ambiguous | 0.3283 | benign | -1.159 | Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.630026513 | None | None | N |
| Y/G | 0.9805 | likely_pathogenic | 0.98 | pathogenic | -3.602 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/H | 0.9725 | likely_pathogenic | 0.972 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.685240621 | None | None | N |
| Y/I | 0.912 | likely_pathogenic | 0.8991 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/K | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| Y/L | 0.9065 | likely_pathogenic | 0.9002 | pathogenic | -1.764 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| Y/M | 0.9333 | likely_pathogenic | 0.9306 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/N | 0.939 | likely_pathogenic | 0.9285 | pathogenic | -3.127 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.701058178 | None | None | N |
| Y/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/Q | 0.995 | likely_pathogenic | 0.9949 | pathogenic | -2.847 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| Y/R | 0.9942 | likely_pathogenic | 0.9939 | pathogenic | -2.104 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/S | 0.976 | likely_pathogenic | 0.9752 | pathogenic | -3.429 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.701259982 | None | None | N |
| Y/T | 0.9823 | likely_pathogenic | 0.9797 | pathogenic | -3.086 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/V | 0.8319 | likely_pathogenic | 0.8152 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/W | 0.8698 | likely_pathogenic | 0.8611 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.822 | 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.