Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18861 | 56806;56807;56808 | chr2:178599212;178599211;178599210 | chr2:179463939;179463938;179463937 |
| N2AB | 17220 | 51883;51884;51885 | chr2:178599212;178599211;178599210 | chr2:179463939;179463938;179463937 |
| N2A | 16293 | 49102;49103;49104 | chr2:178599212;178599211;178599210 | chr2:179463939;179463938;179463937 |
| N2B | 9796 | 29611;29612;29613 | chr2:178599212;178599211;178599210 | chr2:179463939;179463938;179463937 |
| Novex-1 | 9921 | 29986;29987;29988 | chr2:178599212;178599211;178599210 | chr2:179463939;179463938;179463937 |
| Novex-2 | 9988 | 30187;30188;30189 | chr2:178599212;178599211;178599210 | chr2:179463939;179463938;179463937 |
| 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/S | None | None | 1.0 | N | 0.639 | 0.605 | 0.469989170139 | gnomAD-4.0.0 | 7.29651E-07 | None | None | None | None | N | None | 3.29859E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs368419410  |
-1.85 | 1.0 | D | 0.797 | 0.656 | None | gnomAD-2.1.1 | 4.73E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.68E-05 | 0 |
| A/T | rs368419410 |
-1.85 | 1.0 | D | 0.797 | 0.656 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| A/T | rs368419410 |
-1.85 | 1.0 | D | 0.797 | 0.656 | None | gnomAD-4.0.0 | 5.71407E-05 | None | None | None | None | N | None | 1.39416E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.45733E-05 | 0 | 1.70678E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9299 | likely_pathogenic | 0.8837 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/D | 0.9971 | likely_pathogenic | 0.9941 | pathogenic | -2.824 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.562027505 | None | None | N |
| A/E | 0.9962 | likely_pathogenic | 0.992 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/F | 0.9948 | likely_pathogenic | 0.9897 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/G | 0.25 | likely_benign | 0.2174 | benign | -2.195 | Highly Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.518626518 | None | None | N |
| A/H | 0.9979 | likely_pathogenic | 0.9963 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/I | 0.9946 | likely_pathogenic | 0.9859 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/K | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/L | 0.9608 | likely_pathogenic | 0.9219 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/M | 0.9867 | likely_pathogenic | 0.9702 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/N | 0.9942 | likely_pathogenic | 0.9881 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/P | 0.9149 | likely_pathogenic | 0.831 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.550671199 | None | None | N |
| A/Q | 0.9928 | likely_pathogenic | 0.9871 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/R | 0.9953 | likely_pathogenic | 0.992 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/S | 0.474 | ambiguous | 0.3899 | ambiguous | -2.262 | Highly Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.506394385 | None | None | N |
| A/T | 0.9426 | likely_pathogenic | 0.885 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.531473626 | None | None | N |
| A/V | 0.9638 | likely_pathogenic | 0.9188 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.541641844 | None | None | N |
| A/W | 0.9994 | likely_pathogenic | 0.9987 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/Y | 0.9972 | likely_pathogenic | 0.9948 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.861 | 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.