Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31436 | 94531;94532;94533 | chr2:178547219;178547218;178547217 | chr2:179411946;179411945;179411944 |
| N2AB | 29795 | 89608;89609;89610 | chr2:178547219;178547218;178547217 | chr2:179411946;179411945;179411944 |
| N2A | 28868 | 86827;86828;86829 | chr2:178547219;178547218;178547217 | chr2:179411946;179411945;179411944 |
| N2B | 22371 | 67336;67337;67338 | chr2:178547219;178547218;178547217 | chr2:179411946;179411945;179411944 |
| Novex-1 | 22496 | 67711;67712;67713 | chr2:178547219;178547218;178547217 | chr2:179411946;179411945;179411944 |
| Novex-2 | 22563 | 67912;67913;67914 | chr2:178547219;178547218;178547217 | chr2:179411946;179411945;179411944 |
| 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/D | rs550306496  |
-0.917 | 1.0 | N | 0.831 | 0.638 | 0.422524665647 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/D | rs550306496 |
-0.917 | 1.0 | N | 0.831 | 0.638 | 0.422524665647 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs550306496 |
-0.917 | 1.0 | N | 0.831 | 0.638 | 0.422524665647 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/D | rs550306496 |
-0.917 | 1.0 | N | 0.831 | 0.638 | 0.422524665647 | gnomAD-4.0.0 | 6.19642E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47623E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.933 | likely_pathogenic | 0.9378 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.526326659 | None | None | I |
| G/C | 0.9829 | likely_pathogenic | 0.9842 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.538950412 | None | None | I |
| G/D | 0.9946 | likely_pathogenic | 0.9952 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.518818241 | None | None | I |
| G/E | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/F | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/H | 0.9971 | likely_pathogenic | 0.9975 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/K | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/L | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/M | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/N | 0.989 | likely_pathogenic | 0.991 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/Q | 0.9952 | likely_pathogenic | 0.9957 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/R | 0.9893 | likely_pathogenic | 0.9902 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.490598675 | None | None | I |
| G/S | 0.8986 | likely_pathogenic | 0.9057 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.513791812 | None | None | I |
| G/T | 0.9919 | likely_pathogenic | 0.9927 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/V | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.527340618 | None | None | I |
| G/W | 0.9965 | likely_pathogenic | 0.9962 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/Y | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.81 | 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.