Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20739 | 62440;62441;62442 | chr2:178589510;178589509;178589508 | chr2:179454237;179454236;179454235 |
| N2AB | 19098 | 57517;57518;57519 | chr2:178589510;178589509;178589508 | chr2:179454237;179454236;179454235 |
| N2A | 18171 | 54736;54737;54738 | chr2:178589510;178589509;178589508 | chr2:179454237;179454236;179454235 |
| N2B | 11674 | 35245;35246;35247 | chr2:178589510;178589509;178589508 | chr2:179454237;179454236;179454235 |
| Novex-1 | 11799 | 35620;35621;35622 | chr2:178589510;178589509;178589508 | chr2:179454237;179454236;179454235 |
| Novex-2 | 11866 | 35821;35822;35823 | chr2:178589510;178589509;178589508 | chr2:179454237;179454236;179454235 |
| 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 | rs751502535  |
-1.507 | 1.0 | D | 0.875 | 0.766 | 0.897296561061 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| Y/C | rs751502535 |
-1.507 | 1.0 | D | 0.875 | 0.766 | 0.897296561061 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| Y/C | rs751502535 |
-1.507 | 1.0 | D | 0.875 | 0.766 | 0.897296561061 | gnomAD-4.0.0 | 4.33895E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93404E-06 | 0 | 0 |
| Y/F | rs751502535 |
-1.336 | 0.999 | D | 0.756 | 0.742 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| Y/F | rs751502535 |
-1.336 | 0.999 | D | 0.756 | 0.742 | None | gnomAD-4.0.0 | 1.36874E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99562E-07 | 0 | 1.65711E-05 |
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 | 0.9868 | likely_pathogenic | 0.9874 | pathogenic | -3.106 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| Y/C | 0.692 | likely_pathogenic | 0.7534 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.629985434 | None | None | N |
| Y/D | 0.995 | likely_pathogenic | 0.9955 | pathogenic | -3.489 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.646004795 | None | None | N |
| Y/E | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -3.279 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/F | 0.1404 | likely_benign | 0.1686 | benign | -1.094 | Destabilizing | 0.999 | D | 0.756 | deleterious | D | 0.61191767 | None | None | N |
| Y/G | 0.9807 | likely_pathogenic | 0.9811 | pathogenic | -3.52 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/H | 0.8797 | likely_pathogenic | 0.9144 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.646004795 | None | None | N |
| Y/I | 0.9541 | likely_pathogenic | 0.9514 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| Y/K | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -2.238 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/L | 0.8762 | likely_pathogenic | 0.8278 | pathogenic | -1.726 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| Y/M | 0.9572 | likely_pathogenic | 0.9459 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| Y/N | 0.959 | likely_pathogenic | 0.9668 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.645802991 | None | None | N |
| Y/P | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/Q | 0.9933 | likely_pathogenic | 0.9941 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/R | 0.9883 | likely_pathogenic | 0.9899 | pathogenic | -2.0 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/S | 0.9582 | likely_pathogenic | 0.9619 | pathogenic | -3.365 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.646004795 | None | None | N |
| Y/T | 0.988 | likely_pathogenic | 0.9877 | pathogenic | -3.038 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/V | 0.9184 | likely_pathogenic | 0.9042 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/W | 0.6222 | likely_pathogenic | 0.6506 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.815 | 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.