Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23464 | 70615;70616;70617 | chr2:178575742;178575741;178575740 | chr2:179440469;179440468;179440467 |
| N2AB | 21823 | 65692;65693;65694 | chr2:178575742;178575741;178575740 | chr2:179440469;179440468;179440467 |
| N2A | 20896 | 62911;62912;62913 | chr2:178575742;178575741;178575740 | chr2:179440469;179440468;179440467 |
| N2B | 14399 | 43420;43421;43422 | chr2:178575742;178575741;178575740 | chr2:179440469;179440468;179440467 |
| Novex-1 | 14524 | 43795;43796;43797 | chr2:178575742;178575741;178575740 | chr2:179440469;179440468;179440467 |
| Novex-2 | 14591 | 43996;43997;43998 | chr2:178575742;178575741;178575740 | chr2:179440469;179440468;179440467 |
| 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/A | None | None | 0.998 | N | 0.624 | 0.516 | 0.462200489575 | gnomAD-4.0.0 | 1.36861E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| G/D | rs549938348  |
-0.186 | 1.0 | D | 0.709 | 0.599 | 0.562844193612 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/D | rs549938348 |
-0.186 | 1.0 | D | 0.709 | 0.599 | 0.562844193612 | gnomAD-4.0.0 | 6.84303E-07 | None | None | None | None | I | None | 2.98864E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.808 | 0.577 | 0.635404382416 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/V | rs549938348 |
-0.088 | 1.0 | D | 0.804 | 0.599 | 0.751764722199 | 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/V | rs549938348 |
-0.088 | 1.0 | D | 0.804 | 0.599 | 0.751764722199 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs549938348 |
-0.088 | 1.0 | D | 0.804 | 0.599 | 0.751764722199 | gnomAD-4.0.0 | 6.81791E-06 | None | None | None | None | I | None | 0 | 3.33556E-05 | None | 0 | 0 | None | 0 | 0 | 5.93398E-06 | 0 | 3.20297E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8659 | likely_pathogenic | 0.91 | pathogenic | -0.196 | Destabilizing | 0.998 | D | 0.624 | neutral | N | 0.508127635 | None | None | I |
| G/C | 0.8867 | likely_pathogenic | 0.9361 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.521600762 | None | None | I |
| G/D | 0.9902 | likely_pathogenic | 0.9915 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.532107693 | None | None | I |
| G/E | 0.9921 | likely_pathogenic | 0.9936 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/F | 0.986 | likely_pathogenic | 0.9915 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/H | 0.9917 | likely_pathogenic | 0.9947 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/I | 0.9863 | likely_pathogenic | 0.9911 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.995 | likely_pathogenic | 0.9958 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.9847 | likely_pathogenic | 0.9901 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/M | 0.9876 | likely_pathogenic | 0.9925 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9719 | likely_pathogenic | 0.9789 | pathogenic | -0.245 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/Q | 0.9867 | likely_pathogenic | 0.9905 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/R | 0.9852 | likely_pathogenic | 0.9891 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.51952362 | None | None | I |
| G/S | 0.7764 | likely_pathogenic | 0.8517 | pathogenic | -0.413 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | N | 0.503897673 | None | None | I |
| G/T | 0.9641 | likely_pathogenic | 0.9776 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.9761 | likely_pathogenic | 0.9852 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.547249434 | None | None | I |
| G/W | 0.9895 | likely_pathogenic | 0.9935 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Y | 0.9869 | likely_pathogenic | 0.9912 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.783 | 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.