Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30548 | 91867;91868;91869 | chr2:178550196;178550195;178550194 | chr2:179414923;179414922;179414921 |
| N2AB | 28907 | 86944;86945;86946 | chr2:178550196;178550195;178550194 | chr2:179414923;179414922;179414921 |
| N2A | 27980 | 84163;84164;84165 | chr2:178550196;178550195;178550194 | chr2:179414923;179414922;179414921 |
| N2B | 21483 | 64672;64673;64674 | chr2:178550196;178550195;178550194 | chr2:179414923;179414922;179414921 |
| Novex-1 | 21608 | 65047;65048;65049 | chr2:178550196;178550195;178550194 | chr2:179414923;179414922;179414921 |
| Novex-2 | 21675 | 65248;65249;65250 | chr2:178550196;178550195;178550194 | chr2:179414923;179414922;179414921 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs369043548  |
0.729 | 1.0 | N | 0.839 | 0.357 | 0.252681307341 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11359E-04 | None | 0 | None | 0 | 0 | 3.31565E-04 |
| A/P | rs369043548 |
0.729 | 1.0 | N | 0.839 | 0.357 | 0.252681307341 | gnomAD-4.0.0 | 6.15812E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51953E-05 | None | 0 | 0 | 1.79902E-06 | 3.47826E-05 | 4.96952E-05 |
| A/V | rs553668520 |
1.335 | 0.996 | N | 0.755 | 0.264 | 0.231873229951 | gnomAD-2.1.1 | 8.76854E-04 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 6.99438E-03 | None | 0 | 0 | 3.31565E-04 |
| A/V | rs553668520 |
1.335 | 0.996 | N | 0.755 | 0.264 | 0.231873229951 | gnomAD-3.1.2 | 2.8275E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 8.91746E-03 | 0 |
| A/V | rs553668520 |
1.335 | 0.996 | N | 0.755 | 0.264 | 0.231873229951 | 1000 genomes | 1.79712E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 9.2E-03 | None |
| A/V | rs553668520 |
1.335 | 0.996 | N | 0.755 | 0.264 | 0.231873229951 | gnomAD-4.0.0 | 4.01566E-04 | None | None | None | None | N | None | 1.33358E-05 | 3.33389E-05 | None | 0 | 2.22926E-05 | None | 0 | 1.65071E-04 | 4.23824E-06 | 6.54456E-03 | 6.72194E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5898 | likely_pathogenic | 0.5414 | ambiguous | -0.82 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/D | 0.9908 | likely_pathogenic | 0.9853 | pathogenic | 0.087 | Stabilizing | 0.999 | D | 0.864 | deleterious | N | 0.46339157 | None | None | N |
| A/E | 0.987 | likely_pathogenic | 0.9799 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/F | 0.8796 | likely_pathogenic | 0.8429 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/G | 0.2384 | likely_benign | 0.226 | benign | -0.686 | Destabilizing | 0.998 | D | 0.748 | deleterious | N | 0.480394842 | None | None | N |
| A/H | 0.9897 | likely_pathogenic | 0.9854 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/I | 0.5379 | ambiguous | 0.4497 | ambiguous | -0.072 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| A/K | 0.9955 | likely_pathogenic | 0.9931 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/L | 0.506 | ambiguous | 0.4387 | ambiguous | -0.072 | Destabilizing | 0.997 | D | 0.763 | deleterious | None | None | None | None | N |
| A/M | 0.5858 | likely_pathogenic | 0.5254 | ambiguous | -0.318 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/N | 0.9605 | likely_pathogenic | 0.9407 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/P | 0.9738 | likely_pathogenic | 0.9617 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.514238057 | None | None | N |
| A/Q | 0.9767 | likely_pathogenic | 0.968 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/R | 0.9897 | likely_pathogenic | 0.9859 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/S | 0.2577 | likely_benign | 0.2308 | benign | -0.855 | Destabilizing | 0.992 | D | 0.737 | prob.delet. | N | 0.51389134 | None | None | N |
| A/T | 0.2871 | likely_benign | 0.2351 | benign | -0.775 | Destabilizing | 0.884 | D | 0.499 | neutral | N | 0.470351207 | None | None | N |
| A/V | 0.2298 | likely_benign | 0.1813 | benign | -0.166 | Destabilizing | 0.996 | D | 0.755 | deleterious | N | 0.353561322 | None | None | N |
| A/W | 0.9934 | likely_pathogenic | 0.9908 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/Y | 0.9672 | likely_pathogenic | 0.9545 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.892 | 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.