Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33081 | 99466;99467;99468 | chr2:178538588;178538587;178538586 | chr2:179403315;179403314;179403313 |
| N2AB | 31440 | 94543;94544;94545 | chr2:178538588;178538587;178538586 | chr2:179403315;179403314;179403313 |
| N2A | 30513 | 91762;91763;91764 | chr2:178538588;178538587;178538586 | chr2:179403315;179403314;179403313 |
| N2B | 24016 | 72271;72272;72273 | chr2:178538588;178538587;178538586 | chr2:179403315;179403314;179403313 |
| Novex-1 | 24141 | 72646;72647;72648 | chr2:178538588;178538587;178538586 | chr2:179403315;179403314;179403313 |
| Novex-2 | 24208 | 72847;72848;72849 | chr2:178538588;178538587;178538586 | chr2:179403315;179403314;179403313 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/R | rs773795503  |
-0.633 | 0.864 | N | 0.814 | 0.283 | 0.629112818682 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| L/R | rs773795503 |
-0.633 | 0.864 | N | 0.814 | 0.283 | 0.629112818682 | gnomAD-4.0.0 | 1.5918E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85912E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2384 | likely_benign | 0.3444 | ambiguous | -0.633 | Destabilizing | 0.547 | D | 0.671 | neutral | None | None | None | None | N |
| L/C | 0.5187 | ambiguous | 0.6116 | pathogenic | -0.727 | Destabilizing | 0.995 | D | 0.771 | deleterious | None | None | None | None | N |
| L/D | 0.7683 | likely_pathogenic | 0.8523 | pathogenic | 0.233 | Stabilizing | 0.894 | D | 0.822 | deleterious | None | None | None | None | N |
| L/E | 0.508 | ambiguous | 0.5619 | ambiguous | 0.165 | Stabilizing | 0.894 | D | 0.821 | deleterious | None | None | None | None | N |
| L/F | 0.1431 | likely_benign | 0.1898 | benign | -0.568 | Destabilizing | 0.894 | D | 0.772 | deleterious | None | None | None | None | N |
| L/G | 0.5479 | ambiguous | 0.701 | pathogenic | -0.809 | Destabilizing | 0.894 | D | 0.821 | deleterious | None | None | None | None | N |
| L/H | 0.3279 | likely_benign | 0.405 | ambiguous | -0.063 | Destabilizing | 0.995 | D | 0.804 | deleterious | None | None | None | None | N |
| L/I | 0.0632 | likely_benign | 0.0761 | benign | -0.282 | Destabilizing | 0.007 | N | 0.294 | neutral | None | None | None | None | N |
| L/K | 0.3626 | ambiguous | 0.4211 | ambiguous | -0.234 | Destabilizing | 0.894 | D | 0.819 | deleterious | None | None | None | None | N |
| L/M | 0.0984 | likely_benign | 0.1189 | benign | -0.427 | Destabilizing | 0.864 | D | 0.743 | deleterious | N | 0.469935493 | None | None | N |
| L/N | 0.3456 | ambiguous | 0.4999 | ambiguous | -0.072 | Destabilizing | 0.894 | D | 0.824 | deleterious | None | None | None | None | N |
| L/P | 0.2471 | likely_benign | 0.3817 | ambiguous | -0.366 | Destabilizing | 0.928 | D | 0.824 | deleterious | N | 0.457659629 | None | None | N |
| L/Q | 0.2104 | likely_benign | 0.244 | benign | -0.231 | Destabilizing | 0.928 | D | 0.813 | deleterious | N | 0.469050059 | None | None | N |
| L/R | 0.3165 | likely_benign | 0.3699 | ambiguous | 0.23 | Stabilizing | 0.864 | D | 0.814 | deleterious | N | 0.484942231 | None | None | N |
| L/S | 0.3062 | likely_benign | 0.427 | ambiguous | -0.619 | Destabilizing | 0.809 | D | 0.773 | deleterious | None | None | None | None | N |
| L/T | 0.2075 | likely_benign | 0.2964 | benign | -0.567 | Destabilizing | 0.017 | N | 0.42 | neutral | None | None | None | None | N |
| L/V | 0.0782 | likely_benign | 0.0949 | benign | -0.366 | Destabilizing | 0.114 | N | 0.593 | neutral | N | 0.452925813 | None | None | N |
| L/W | 0.3857 | ambiguous | 0.4401 | ambiguous | -0.567 | Destabilizing | 0.995 | D | 0.786 | deleterious | None | None | None | None | N |
| L/Y | 0.3936 | ambiguous | 0.4784 | ambiguous | -0.318 | Destabilizing | 0.945 | D | 0.791 | 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.