Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21222 | 63889;63890;63891 | chr2:178587645;178587644;178587643 | chr2:179452372;179452371;179452370 |
| N2AB | 19581 | 58966;58967;58968 | chr2:178587645;178587644;178587643 | chr2:179452372;179452371;179452370 |
| N2A | 18654 | 56185;56186;56187 | chr2:178587645;178587644;178587643 | chr2:179452372;179452371;179452370 |
| N2B | 12157 | 36694;36695;36696 | chr2:178587645;178587644;178587643 | chr2:179452372;179452371;179452370 |
| Novex-1 | 12282 | 37069;37070;37071 | chr2:178587645;178587644;178587643 | chr2:179452372;179452371;179452370 |
| Novex-2 | 12349 | 37270;37271;37272 | chr2:178587645;178587644;178587643 | chr2:179452372;179452371;179452370 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs183595734  |
-1.233 | 0.999 | D | 0.521 | 0.613 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 4.14E-05 | 0 | None | 0 | 5.2E-05 | None | 0 | None | 0 | 7.84E-06 | 0 |
| V/A | rs183595734 |
-1.233 | 0.999 | D | 0.521 | 0.613 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 1.9478E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs183595734 |
-1.233 | 0.999 | D | 0.521 | 0.613 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/A | rs183595734 |
-1.233 | 0.999 | D | 0.521 | 0.613 | None | gnomAD-4.0.0 | 7.44027E-06 | None | None | None | None | I | None | 1.33369E-05 | 0 | None | 3.38043E-05 | 2.24185E-05 | None | 0 | 0 | 4.23936E-06 | 3.29518E-05 | 1.6019E-05 |
| V/G | rs183595734 |
None | 1.0 | N | 0.795 | 0.677 | 0.928019228929 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs183595734 |
None | 1.0 | N | 0.795 | 0.677 | 0.928019228929 | gnomAD-4.0.0 | 2.48027E-06 | None | None | None | None | I | None | 5.34345E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3401 | ambiguous | 0.3065 | benign | -1.317 | Destabilizing | 0.999 | D | 0.521 | neutral | D | 0.530137862 | None | None | I |
| V/C | 0.8164 | likely_pathogenic | 0.813 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| V/D | 0.7607 | likely_pathogenic | 0.7026 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.525835902 | None | None | I |
| V/E | 0.6043 | likely_pathogenic | 0.5449 | ambiguous | -1.144 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| V/F | 0.4583 | ambiguous | 0.4253 | ambiguous | -0.974 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.490891159 | None | None | I |
| V/G | 0.4908 | ambiguous | 0.4353 | ambiguous | -1.64 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.520555983 | None | None | I |
| V/H | 0.8524 | likely_pathogenic | 0.8351 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| V/I | 0.1062 | likely_benign | 0.1133 | benign | -0.534 | Destabilizing | 0.997 | D | 0.499 | neutral | N | 0.421891696 | None | None | I |
| V/K | 0.6937 | likely_pathogenic | 0.6526 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| V/L | 0.4656 | ambiguous | 0.4367 | ambiguous | -0.534 | Destabilizing | 0.997 | D | 0.513 | neutral | N | 0.48729308 | None | None | I |
| V/M | 0.2743 | likely_benign | 0.2664 | benign | -0.413 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| V/N | 0.6602 | likely_pathogenic | 0.6116 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| V/P | 0.8218 | likely_pathogenic | 0.808 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| V/Q | 0.6435 | likely_pathogenic | 0.6037 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| V/R | 0.6715 | likely_pathogenic | 0.6033 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| V/S | 0.5183 | ambiguous | 0.4784 | ambiguous | -1.424 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| V/T | 0.3003 | likely_benign | 0.2816 | benign | -1.312 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | I |
| V/W | 0.9167 | likely_pathogenic | 0.9093 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| V/Y | 0.7808 | likely_pathogenic | 0.7598 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
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.