Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18873 | 56842;56843;56844 | chr2:178599176;178599175;178599174 | chr2:179463903;179463902;179463901 |
| N2AB | 17232 | 51919;51920;51921 | chr2:178599176;178599175;178599174 | chr2:179463903;179463902;179463901 |
| N2A | 16305 | 49138;49139;49140 | chr2:178599176;178599175;178599174 | chr2:179463903;179463902;179463901 |
| N2B | 9808 | 29647;29648;29649 | chr2:178599176;178599175;178599174 | chr2:179463903;179463902;179463901 |
| Novex-1 | 9933 | 30022;30023;30024 | chr2:178599176;178599175;178599174 | chr2:179463903;179463902;179463901 |
| Novex-2 | 10000 | 30223;30224;30225 | chr2:178599176;178599175;178599174 | chr2:179463903;179463902;179463901 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1212401338  |
-0.915 | 0.997 | N | 0.768 | 0.211 | 0.400613892164 | gnomAD-2.1.1 | 1.17E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.37382E-04 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs1212401338 |
-0.915 | 0.997 | N | 0.768 | 0.211 | 0.400613892164 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1212401338 |
-0.915 | 0.997 | N | 0.768 | 0.211 | 0.400613892164 | gnomAD-4.0.0 | 2.65483E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.93577E-05 | None | 0 | 0 | 0 | 1.43563E-05 | 0 |
| S/N | rs2154191135 |
None | 0.997 | D | 0.824 | 0.351 | 0.456462010053 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3952 | ambiguous | 0.4113 | ambiguous | -0.403 | Destabilizing | 0.995 | D | 0.661 | prob.neutral | None | None | None | None | N |
| S/C | 0.476 | ambiguous | 0.4727 | ambiguous | -0.209 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.529771197 | None | None | N |
| S/D | 0.9778 | likely_pathogenic | 0.9787 | pathogenic | -0.018 | Destabilizing | 0.998 | D | 0.807 | deleterious | None | None | None | None | N |
| S/E | 0.9927 | likely_pathogenic | 0.9932 | pathogenic | 0.089 | Stabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | N |
| S/F | 0.9784 | likely_pathogenic | 0.9826 | pathogenic | -0.427 | Destabilizing | 0.999 | D | 0.85 | deleterious | None | None | None | None | N |
| S/G | 0.4132 | ambiguous | 0.3814 | ambiguous | -0.742 | Destabilizing | 0.997 | D | 0.768 | deleterious | N | 0.497081406 | None | None | N |
| S/H | 0.9766 | likely_pathogenic | 0.9782 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| S/I | 0.9548 | likely_pathogenic | 0.9612 | pathogenic | 0.414 | Stabilizing | 0.999 | D | 0.839 | deleterious | N | 0.508437712 | None | None | N |
| S/K | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.013 | Destabilizing | 0.998 | D | 0.805 | deleterious | None | None | None | None | N |
| S/L | 0.8038 | likely_pathogenic | 0.8319 | pathogenic | 0.414 | Stabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| S/M | 0.8339 | likely_pathogenic | 0.8471 | pathogenic | 0.257 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| S/N | 0.9394 | likely_pathogenic | 0.9345 | pathogenic | -0.362 | Destabilizing | 0.997 | D | 0.824 | deleterious | D | 0.523187832 | None | None | N |
| S/P | 0.9933 | likely_pathogenic | 0.9949 | pathogenic | 0.178 | Stabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| S/Q | 0.9887 | likely_pathogenic | 0.9892 | pathogenic | -0.238 | Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| S/R | 0.9964 | likely_pathogenic | 0.9969 | pathogenic | -0.246 | Destabilizing | 0.999 | D | 0.836 | deleterious | D | 0.540874013 | None | None | N |
| S/T | 0.2446 | likely_benign | 0.2469 | benign | -0.231 | Destabilizing | 0.997 | D | 0.777 | deleterious | N | 0.511619905 | None | None | N |
| S/V | 0.8973 | likely_pathogenic | 0.9076 | pathogenic | 0.178 | Stabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| S/W | 0.9827 | likely_pathogenic | 0.9871 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| S/Y | 0.9737 | likely_pathogenic | 0.9782 | pathogenic | -0.141 | Destabilizing | 0.999 | D | 0.875 | 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.