Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31295 | 94108;94109;94110 | chr2:178547743;178547742;178547741 | chr2:179412470;179412469;179412468 |
| N2AB | 29654 | 89185;89186;89187 | chr2:178547743;178547742;178547741 | chr2:179412470;179412469;179412468 |
| N2A | 28727 | 86404;86405;86406 | chr2:178547743;178547742;178547741 | chr2:179412470;179412469;179412468 |
| N2B | 22230 | 66913;66914;66915 | chr2:178547743;178547742;178547741 | chr2:179412470;179412469;179412468 |
| Novex-1 | 22355 | 67288;67289;67290 | chr2:178547743;178547742;178547741 | chr2:179412470;179412469;179412468 |
| Novex-2 | 22422 | 67489;67490;67491 | chr2:178547743;178547742;178547741 | chr2:179412470;179412469;179412468 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs1235271231  |
-0.561 | 1.0 | D | 0.834 | 0.733 | 0.898243142732 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/C | rs1235271231 |
-0.561 | 1.0 | D | 0.834 | 0.733 | 0.898243142732 | gnomAD-4.0.0 | 1.5918E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1211735152 |
-0.502 | 0.898 | D | 0.546 | 0.612 | 0.546217525997 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs1211735152 |
-0.502 | 0.898 | D | 0.546 | 0.612 | 0.546217525997 | gnomAD-4.0.0 | 4.77544E-06 | None | None | None | None | I | None | 5.65675E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85785E-06 | 1.43271E-05 | 0 |
| G/R | rs1235271231 |
-0.131 | 1.0 | D | 0.865 | 0.736 | 0.876500024658 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/R | rs1235271231 |
-0.131 | 1.0 | D | 0.865 | 0.736 | 0.876500024658 | gnomAD-4.0.0 | 1.5918E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85781E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4132 | ambiguous | 0.4734 | ambiguous | -0.271 | Destabilizing | 1.0 | D | 0.645 | neutral | D | 0.599675509 | None | None | I |
| G/C | 0.639 | likely_pathogenic | 0.7047 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.616905696 | None | None | I |
| G/D | 0.8077 | likely_pathogenic | 0.8621 | pathogenic | -0.845 | Destabilizing | 0.898 | D | 0.546 | neutral | D | 0.599271901 | None | None | I |
| G/E | 0.8605 | likely_pathogenic | 0.9007 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/F | 0.9469 | likely_pathogenic | 0.9609 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/H | 0.9119 | likely_pathogenic | 0.93 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/I | 0.9119 | likely_pathogenic | 0.9376 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/K | 0.9034 | likely_pathogenic | 0.9187 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/L | 0.9138 | likely_pathogenic | 0.9291 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/M | 0.916 | likely_pathogenic | 0.9358 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/N | 0.8147 | likely_pathogenic | 0.8661 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/P | 0.9951 | likely_pathogenic | 0.997 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.8696 | likely_pathogenic | 0.8936 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/R | 0.8021 | likely_pathogenic | 0.8193 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.615896674 | None | None | I |
| G/S | 0.3408 | ambiguous | 0.419 | ambiguous | -0.527 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.564245399 | None | None | I |
| G/T | 0.6755 | likely_pathogenic | 0.7447 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/V | 0.8105 | likely_pathogenic | 0.8607 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.616502087 | None | None | I |
| G/W | 0.9191 | likely_pathogenic | 0.9374 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/Y | 0.9219 | likely_pathogenic | 0.9385 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.857 | 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.