Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16131 | 48616;48617;48618 | chr2:178615710;178615709;178615708 | chr2:179480437;179480436;179480435 |
| N2AB | 14490 | 43693;43694;43695 | chr2:178615710;178615709;178615708 | chr2:179480437;179480436;179480435 |
| N2A | 13563 | 40912;40913;40914 | chr2:178615710;178615709;178615708 | chr2:179480437;179480436;179480435 |
| N2B | 7066 | 21421;21422;21423 | chr2:178615710;178615709;178615708 | chr2:179480437;179480436;179480435 |
| Novex-1 | 7191 | 21796;21797;21798 | chr2:178615710;178615709;178615708 | chr2:179480437;179480436;179480435 |
| Novex-2 | 7258 | 21997;21998;21999 | chr2:178615710;178615709;178615708 | chr2:179480437;179480436;179480435 |
| 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/G | None | None | 1.0 | D | 0.609 | 0.705 | 0.536381233585 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| A/P | None | None | 1.0 | D | 0.875 | 0.78 | 0.607483585054 | gnomAD-4.0.0 | 6.84742E-07 | None | None | None | None | N | None | 2.99581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs571868215  |
-2.2 | 1.0 | D | 0.602 | 0.608 | 0.424313518543 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/S | rs571868215 |
-2.2 | 1.0 | D | 0.602 | 0.608 | 0.424313518543 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| A/S | rs571868215 |
-2.2 | 1.0 | D | 0.602 | 0.608 | 0.424313518543 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| A/S | rs571868215 |
-2.2 | 1.0 | D | 0.602 | 0.608 | 0.424313518543 | gnomAD-4.0.0 | 6.82197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20866E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8493 | likely_pathogenic | 0.8503 | pathogenic | -1.954 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/D | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -3.038 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.82315457 | None | None | N |
| A/E | 0.9942 | likely_pathogenic | 0.9944 | pathogenic | -2.832 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/F | 0.9853 | likely_pathogenic | 0.986 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| A/G | 0.3614 | ambiguous | 0.4089 | ambiguous | -2.126 | Highly Destabilizing | 1.0 | D | 0.609 | neutral | D | 0.675001349 | None | None | N |
| A/H | 0.9957 | likely_pathogenic | 0.9959 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/I | 0.973 | likely_pathogenic | 0.9709 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/K | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/L | 0.9116 | likely_pathogenic | 0.908 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/M | 0.9723 | likely_pathogenic | 0.9742 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/N | 0.992 | likely_pathogenic | 0.9922 | pathogenic | -2.004 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| A/P | 0.7417 | likely_pathogenic | 0.7398 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.743735537 | None | None | N |
| A/Q | 0.9838 | likely_pathogenic | 0.9848 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/R | 0.9903 | likely_pathogenic | 0.9904 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/S | 0.3453 | ambiguous | 0.375 | ambiguous | -2.316 | Highly Destabilizing | 1.0 | D | 0.602 | neutral | D | 0.639528611 | None | None | N |
| A/T | 0.8497 | likely_pathogenic | 0.8643 | pathogenic | -2.011 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.736071333 | None | None | N |
| A/V | 0.8723 | likely_pathogenic | 0.8755 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.750741514 | None | None | N |
| A/W | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/Y | 0.9951 | likely_pathogenic | 0.9951 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.903 | 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.