Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25651 | 77176;77177;77178 | chr2:178569181;178569180;178569179 | chr2:179433908;179433907;179433906 |
| N2AB | 24010 | 72253;72254;72255 | chr2:178569181;178569180;178569179 | chr2:179433908;179433907;179433906 |
| N2A | 23083 | 69472;69473;69474 | chr2:178569181;178569180;178569179 | chr2:179433908;179433907;179433906 |
| N2B | 16586 | 49981;49982;49983 | chr2:178569181;178569180;178569179 | chr2:179433908;179433907;179433906 |
| Novex-1 | 16711 | 50356;50357;50358 | chr2:178569181;178569180;178569179 | chr2:179433908;179433907;179433906 |
| Novex-2 | 16778 | 50557;50558;50559 | chr2:178569181;178569180;178569179 | chr2:179433908;179433907;179433906 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs370768049  |
-1.789 | 0.996 | N | 0.479 | 0.318 | None | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 1.67168E-04 |
| V/A | rs370768049 |
-1.789 | 0.996 | N | 0.479 | 0.318 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/A | rs370768049 |
-1.789 | 0.996 | N | 0.479 | 0.318 | None | gnomAD-4.0.0 | 7.44383E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.94886E-04 | 7.63275E-06 | 0 | 0 |
| V/F | rs1219661897 |
-1.168 | 0.999 | N | 0.821 | 0.397 | 0.828347416448 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/F | rs1219661897 |
-1.168 | 0.999 | N | 0.821 | 0.397 | 0.828347416448 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/F | rs1219661897 |
-1.168 | 0.999 | N | 0.821 | 0.397 | 0.828347416448 | gnomAD-4.0.0 | 8.06465E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10254E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.209 | likely_benign | 0.2499 | benign | -1.417 | Destabilizing | 0.996 | D | 0.479 | neutral | N | 0.471595821 | None | None | N |
| V/C | 0.8459 | likely_pathogenic | 0.8582 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/D | 0.948 | likely_pathogenic | 0.9485 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.52822599 | None | None | N |
| V/E | 0.8702 | likely_pathogenic | 0.8773 | pathogenic | -1.317 | Destabilizing | 0.999 | D | 0.798 | deleterious | None | None | None | None | N |
| V/F | 0.4828 | ambiguous | 0.508 | ambiguous | -0.944 | Destabilizing | 0.999 | D | 0.821 | deleterious | N | 0.509743342 | None | None | N |
| V/G | 0.6162 | likely_pathogenic | 0.6465 | pathogenic | -1.803 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.517630154 | None | None | N |
| V/H | 0.9494 | likely_pathogenic | 0.9532 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/I | 0.0826 | likely_benign | 0.0855 | benign | -0.424 | Destabilizing | 0.194 | N | 0.256 | neutral | N | 0.483650143 | None | None | N |
| V/K | 0.9232 | likely_pathogenic | 0.9263 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/L | 0.3687 | ambiguous | 0.4094 | ambiguous | -0.424 | Destabilizing | 0.788 | D | 0.421 | neutral | N | 0.470483412 | None | None | N |
| V/M | 0.2597 | likely_benign | 0.2825 | benign | -0.411 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/N | 0.8186 | likely_pathogenic | 0.8342 | pathogenic | -1.236 | Destabilizing | 0.998 | D | 0.832 | deleterious | None | None | None | None | N |
| V/P | 0.9466 | likely_pathogenic | 0.9572 | pathogenic | -0.721 | Destabilizing | 0.998 | D | 0.825 | deleterious | None | None | None | None | N |
| V/Q | 0.8389 | likely_pathogenic | 0.8509 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/R | 0.8992 | likely_pathogenic | 0.9038 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/S | 0.5034 | ambiguous | 0.5346 | ambiguous | -1.77 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| V/T | 0.3265 | likely_benign | 0.3597 | ambiguous | -1.552 | Destabilizing | 0.992 | D | 0.601 | neutral | None | None | None | None | N |
| V/W | 0.979 | likely_pathogenic | 0.9815 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| V/Y | 0.9105 | likely_pathogenic | 0.9196 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.827 | 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.