Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28297 | 85114;85115;85116 | chr2:178561243;178561242;178561241 | chr2:179425970;179425969;179425968 |
| N2AB | 26656 | 80191;80192;80193 | chr2:178561243;178561242;178561241 | chr2:179425970;179425969;179425968 |
| N2A | 25729 | 77410;77411;77412 | chr2:178561243;178561242;178561241 | chr2:179425970;179425969;179425968 |
| N2B | 19232 | 57919;57920;57921 | chr2:178561243;178561242;178561241 | chr2:179425970;179425969;179425968 |
| Novex-1 | 19357 | 58294;58295;58296 | chr2:178561243;178561242;178561241 | chr2:179425970;179425969;179425968 |
| Novex-2 | 19424 | 58495;58496;58497 | chr2:178561243;178561242;178561241 | chr2:179425970;179425969;179425968 |
| 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 | rs1200686560  |
-0.312 | 0.995 | N | 0.627 | 0.486 | 0.384252928164 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1200686560 |
-0.312 | 0.995 | N | 0.627 | 0.486 | 0.384252928164 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs780963952 |
-0.313 | 0.997 | D | 0.625 | 0.459 | 0.343560092441 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/S | rs780963952 |
-0.313 | 0.997 | D | 0.625 | 0.459 | 0.343560092441 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.4938 | ambiguous | 0.5227 | ambiguous | -0.655 | Destabilizing | 0.991 | D | 0.517 | neutral | N | 0.486767696 | None | None | N |
| G/C | 0.6738 | likely_pathogenic | 0.6984 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.528611746 | None | None | N |
| G/D | 0.7883 | likely_pathogenic | 0.7778 | pathogenic | -1.167 | Destabilizing | 0.995 | D | 0.627 | neutral | N | 0.474272528 | None | None | N |
| G/E | 0.8104 | likely_pathogenic | 0.7957 | pathogenic | -1.282 | Destabilizing | 0.713 | D | 0.519 | neutral | None | None | None | None | N |
| G/F | 0.9572 | likely_pathogenic | 0.9615 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/H | 0.8867 | likely_pathogenic | 0.8844 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/I | 0.8923 | likely_pathogenic | 0.8988 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/K | 0.8698 | likely_pathogenic | 0.8562 | pathogenic | -1.373 | Destabilizing | 0.996 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/L | 0.9137 | likely_pathogenic | 0.9245 | pathogenic | -0.503 | Destabilizing | 0.998 | D | 0.803 | deleterious | None | None | None | None | N |
| G/M | 0.9157 | likely_pathogenic | 0.9276 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/N | 0.7647 | likely_pathogenic | 0.7697 | pathogenic | -0.876 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| G/P | 0.9866 | likely_pathogenic | 0.9858 | pathogenic | -0.516 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Q | 0.8203 | likely_pathogenic | 0.8115 | pathogenic | -1.134 | Destabilizing | 0.996 | D | 0.77 | deleterious | None | None | None | None | N |
| G/R | 0.7979 | likely_pathogenic | 0.7953 | pathogenic | -0.93 | Destabilizing | 0.997 | D | 0.771 | deleterious | N | 0.47304476 | None | None | N |
| G/S | 0.2969 | likely_benign | 0.3306 | benign | -1.014 | Destabilizing | 0.997 | D | 0.625 | neutral | D | 0.522311328 | None | None | N |
| G/T | 0.6352 | likely_pathogenic | 0.67 | pathogenic | -1.069 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| G/V | 0.8172 | likely_pathogenic | 0.8295 | pathogenic | -0.516 | Destabilizing | 0.999 | D | 0.795 | deleterious | N | 0.490059378 | None | None | N |
| G/W | 0.9158 | likely_pathogenic | 0.9257 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/Y | 0.9132 | likely_pathogenic | 0.9178 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.813 | 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.