Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23274 | 70045;70046;70047 | chr2:178576312;178576311;178576310 | chr2:179441039;179441038;179441037 |
| N2AB | 21633 | 65122;65123;65124 | chr2:178576312;178576311;178576310 | chr2:179441039;179441038;179441037 |
| N2A | 20706 | 62341;62342;62343 | chr2:178576312;178576311;178576310 | chr2:179441039;179441038;179441037 |
| N2B | 14209 | 42850;42851;42852 | chr2:178576312;178576311;178576310 | chr2:179441039;179441038;179441037 |
| Novex-1 | 14334 | 43225;43226;43227 | chr2:178576312;178576311;178576310 | chr2:179441039;179441038;179441037 |
| Novex-2 | 14401 | 43426;43427;43428 | chr2:178576312;178576311;178576310 | chr2:179441039;179441038;179441037 |
| 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 | rs201043950  |
0.15 | 1.0 | N | 0.643 | 0.504 | 0.399740851666 | gnomAD-2.1.1 | 4.74E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.11E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs201043950 |
0.15 | 1.0 | N | 0.643 | 0.504 | 0.399740851666 | gnomAD-4.0.0 | 7.02499E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5422E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs201043950 |
-1.472 | 1.0 | N | 0.835 | 0.601 | None | gnomAD-2.1.1 | 1.20915E-03 | None | None | None | None | N | None | 1.28183E-04 | 5.23414E-04 | None | 4.12088E-04 | 0 | None | 4.54E-05 | None | 1.08066E-03 | 2.09007E-03 | 1.33023E-03 |
| G/D | rs201043950 |
-1.472 | 1.0 | N | 0.835 | 0.601 | None | gnomAD-3.1.2 | 1.05244E-03 | None | None | None | None | N | None | 1.20726E-04 | 5.24178E-04 | 1.09649E-03 | 8.65551E-04 | 0 | None | 1.03715E-03 | 0 | 1.91193E-03 | 2.07469E-04 | 4.80307E-04 |
| G/D | rs201043950 |
-1.472 | 1.0 | N | 0.835 | 0.601 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/D | rs201043950 |
-1.472 | 1.0 | N | 0.835 | 0.601 | None | gnomAD-4.0.0 | 1.30678E-03 | None | None | None | None | N | None | 1.23001E-04 | 5.86699E-04 | None | 6.26982E-04 | 0 | None | 9.46514E-04 | 6.87758E-04 | 1.59788E-03 | 1.67685E-04 | 1.03598E-03 |
| G/S | rs786205331 |
-0.892 | 1.0 | N | 0.681 | 0.511 | 0.371903410333 | gnomAD-2.1.1 | 4.74E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.54E-05 | None | 0 | 0 | 0 |
| G/S | rs786205331 |
-0.892 | 1.0 | N | 0.681 | 0.511 | 0.371903410333 | gnomAD-4.0.0 | 1.69462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.60854E-05 | 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 | 0.5396 | ambiguous | 0.4444 | ambiguous | -0.611 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.493835268 | None | None | N |
| G/C | 0.8357 | likely_pathogenic | 0.7471 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.520955652 | None | None | N |
| G/D | 0.9358 | likely_pathogenic | 0.9066 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.503305469 | None | None | N |
| G/E | 0.9576 | likely_pathogenic | 0.9387 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/F | 0.9915 | likely_pathogenic | 0.9829 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/H | 0.9577 | likely_pathogenic | 0.9279 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/I | 0.9888 | likely_pathogenic | 0.9802 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/K | 0.9753 | likely_pathogenic | 0.9635 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/L | 0.9855 | likely_pathogenic | 0.9733 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/M | 0.9846 | likely_pathogenic | 0.9725 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/N | 0.9318 | likely_pathogenic | 0.8855 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/Q | 0.9443 | likely_pathogenic | 0.9208 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/R | 0.9328 | likely_pathogenic | 0.901 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.498252586 | None | None | N |
| G/S | 0.4278 | ambiguous | 0.3595 | ambiguous | -1.21 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.511577046 | None | None | N |
| G/T | 0.8964 | likely_pathogenic | 0.8416 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/V | 0.9704 | likely_pathogenic | 0.9497 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.526271569 | None | None | N |
| G/W | 0.977 | likely_pathogenic | 0.9589 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Y | 0.9748 | likely_pathogenic | 0.9508 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.856 | 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.