Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15659 | 47200;47201;47202 | chr2:178618483;178618482;178618481 | chr2:179483210;179483209;179483208 |
| N2AB | 14018 | 42277;42278;42279 | chr2:178618483;178618482;178618481 | chr2:179483210;179483209;179483208 |
| N2A | 13091 | 39496;39497;39498 | chr2:178618483;178618482;178618481 | chr2:179483210;179483209;179483208 |
| N2B | 6594 | 20005;20006;20007 | chr2:178618483;178618482;178618481 | chr2:179483210;179483209;179483208 |
| Novex-1 | 6719 | 20380;20381;20382 | chr2:178618483;178618482;178618481 | chr2:179483210;179483209;179483208 |
| Novex-2 | 6786 | 20581;20582;20583 | chr2:178618483;178618482;178618481 | chr2:179483210;179483209;179483208 |
| 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/E | rs929245012  |
None | 1.0 | D | 0.838 | 0.536 | 0.486352402194 | gnomAD-4.0.0 | 4.11169E-06 | None | None | None | None | N | None | 0 | 2.25581E-05 | None | 0 | 0 | None | 0 | 0 | 4.50076E-06 | 0 | 0 |
| G/R | rs759100550 |
-0.708 | 1.0 | D | 0.825 | 0.55 | 0.411531665326 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 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 | 0.4884 | ambiguous | 0.5132 | ambiguous | -0.775 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.580447352 | None | None | N |
| G/C | 0.7908 | likely_pathogenic | 0.8163 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/D | 0.7703 | likely_pathogenic | 0.8128 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/E | 0.7423 | likely_pathogenic | 0.7852 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.68781263 | None | None | N |
| G/F | 0.9571 | likely_pathogenic | 0.9564 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/H | 0.9434 | likely_pathogenic | 0.9538 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/I | 0.9458 | likely_pathogenic | 0.938 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/K | 0.9412 | likely_pathogenic | 0.9438 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/L | 0.8943 | likely_pathogenic | 0.9147 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.9365 | likely_pathogenic | 0.9506 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/N | 0.8375 | likely_pathogenic | 0.8669 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/P | 0.9873 | likely_pathogenic | 0.9886 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.8581 | likely_pathogenic | 0.8844 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/R | 0.9146 | likely_pathogenic | 0.9136 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.629623017 | None | None | N |
| G/S | 0.3209 | likely_benign | 0.3788 | ambiguous | -1.156 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/T | 0.7105 | likely_pathogenic | 0.7579 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/V | 0.8924 | likely_pathogenic | 0.8876 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.692069227 | None | None | N |
| G/W | 0.9462 | likely_pathogenic | 0.9457 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.693053709 | None | None | N |
| G/Y | 0.9403 | likely_pathogenic | 0.9417 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.807 | 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.