Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10159 | 30700;30701;30702 | chr2:178702204;178702203;178702202 | chr2:179566931;179566930;179566929 |
| N2AB | 9842 | 29749;29750;29751 | chr2:178702204;178702203;178702202 | chr2:179566931;179566930;179566929 |
| N2A | 8915 | 26968;26969;26970 | chr2:178702204;178702203;178702202 | chr2:179566931;179566930;179566929 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/V | rs1468822039  |
-0.856 | 1.0 | None | 0.605 | 0.317 | 0.571034400148 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1468822039 |
-0.856 | 1.0 | None | 0.605 | 0.317 | 0.571034400148 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1468822039 |
-0.856 | 1.0 | None | 0.605 | 0.317 | 0.571034400148 | gnomAD-4.0.0 | 2.56175E-06 | None | None | None | None | N | None | 3.38306E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.944 | likely_pathogenic | 0.9528 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| A/D | 0.9847 | likely_pathogenic | 0.9825 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/E | 0.9633 | likely_pathogenic | 0.9484 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/F | 0.9385 | likely_pathogenic | 0.9323 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/G | 0.7719 | likely_pathogenic | 0.7954 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.547 | neutral | None | None | None | None | N |
| A/H | 0.9791 | likely_pathogenic | 0.9779 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/I | 0.9408 | likely_pathogenic | 0.9359 | pathogenic | -0.043 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/K | 0.9862 | likely_pathogenic | 0.9845 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/L | 0.8728 | likely_pathogenic | 0.8494 | pathogenic | -0.043 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/M | 0.9136 | likely_pathogenic | 0.9042 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/N | 0.9685 | likely_pathogenic | 0.9608 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/P | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/Q | 0.9468 | likely_pathogenic | 0.9374 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/R | 0.9626 | likely_pathogenic | 0.9543 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/S | 0.4988 | ambiguous | 0.5249 | ambiguous | -1.207 | Destabilizing | 1.0 | D | 0.55 | neutral | None | None | None | None | N |
| A/T | 0.7813 | likely_pathogenic | 0.7715 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| A/V | 0.8081 | likely_pathogenic | 0.7965 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| A/W | 0.9925 | likely_pathogenic | 0.9927 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/Y | 0.969 | likely_pathogenic | 0.9711 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.887 | 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.