Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27470 | 82633;82634;82635 | chr2:178563724;178563723;178563722 | chr2:179428451;179428450;179428449 |
| N2AB | 25829 | 77710;77711;77712 | chr2:178563724;178563723;178563722 | chr2:179428451;179428450;179428449 |
| N2A | 24902 | 74929;74930;74931 | chr2:178563724;178563723;178563722 | chr2:179428451;179428450;179428449 |
| N2B | 18405 | 55438;55439;55440 | chr2:178563724;178563723;178563722 | chr2:179428451;179428450;179428449 |
| Novex-1 | 18530 | 55813;55814;55815 | chr2:178563724;178563723;178563722 | chr2:179428451;179428450;179428449 |
| Novex-2 | 18597 | 56014;56015;56016 | chr2:178563724;178563723;178563722 | chr2:179428451;179428450;179428449 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | rs886055239  |
-2.052 | 1.0 | D | 0.793 | 0.64 | 0.825528967063 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/T | rs886055239 |
-2.052 | 1.0 | D | 0.793 | 0.64 | 0.825528967063 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs886055239 |
-2.052 | 1.0 | D | 0.793 | 0.64 | 0.825528967063 | gnomAD-4.0.0 | 4.33812E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08579E-06 | 0 | 1.60108E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.3477 | ambiguous | 0.3423 | ambiguous | -1.492 | Destabilizing | 0.999 | D | 0.819 | deleterious | D | 0.614483994 | None | None | N |
| P/C | 0.912 | likely_pathogenic | 0.9103 | pathogenic | -1.777 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| P/D | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -3.162 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/E | 0.9916 | likely_pathogenic | 0.9887 | pathogenic | -3.099 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/F | 0.997 | likely_pathogenic | 0.9967 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| P/G | 0.9539 | likely_pathogenic | 0.9486 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/H | 0.987 | likely_pathogenic | 0.9828 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/I | 0.9594 | likely_pathogenic | 0.9612 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.728 | deleterious | None | None | None | None | N |
| P/K | 0.9932 | likely_pathogenic | 0.9901 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/L | 0.8813 | likely_pathogenic | 0.8753 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.643908184 | None | None | N |
| P/M | 0.9781 | likely_pathogenic | 0.9784 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| P/N | 0.9955 | likely_pathogenic | 0.9946 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/Q | 0.978 | likely_pathogenic | 0.9708 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.66012935 | None | None | N |
| P/R | 0.9746 | likely_pathogenic | 0.9637 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.659927545 | None | None | N |
| P/S | 0.8125 | likely_pathogenic | 0.8 | pathogenic | -2.013 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.638366593 | None | None | N |
| P/T | 0.8401 | likely_pathogenic | 0.8328 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.650408795 | None | None | N |
| P/V | 0.8632 | likely_pathogenic | 0.8715 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/W | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.791 | 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.