Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30232 | 90919;90920;90921 | chr2:178552206;178552205;178552204 | chr2:179416933;179416932;179416931 |
| N2AB | 28591 | 85996;85997;85998 | chr2:178552206;178552205;178552204 | chr2:179416933;179416932;179416931 |
| N2A | 27664 | 83215;83216;83217 | chr2:178552206;178552205;178552204 | chr2:179416933;179416932;179416931 |
| N2B | 21167 | 63724;63725;63726 | chr2:178552206;178552205;178552204 | chr2:179416933;179416932;179416931 |
| Novex-1 | 21292 | 64099;64100;64101 | chr2:178552206;178552205;178552204 | chr2:179416933;179416932;179416931 |
| Novex-2 | 21359 | 64300;64301;64302 | chr2:178552206;178552205;178552204 | chr2:179416933;179416932;179416931 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 0.901 | N | 0.672 | 0.181 | 0.267299060538 | gnomAD-4.0.0 | 2.73742E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59831E-06 | 0 | 0 |
| I/T | rs779172234  |
-2.334 | 0.722 | N | 0.712 | 0.394 | 0.546393912413 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.83E-05 | None | 0 | 0 | 0 |
| I/T | rs779172234 |
-2.334 | 0.722 | N | 0.712 | 0.394 | 0.546393912413 | gnomAD-4.0.0 | 3.42157E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.80073E-05 | 0 |
| I/V | None | None | 0.008 | N | 0.297 | 0.075 | 0.163833314356 | gnomAD-4.0.0 | 6.84356E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16034E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8971 | likely_pathogenic | 0.9259 | pathogenic | -2.108 | Highly Destabilizing | 0.415 | N | 0.643 | neutral | None | None | None | None | N |
| I/C | 0.9321 | likely_pathogenic | 0.9509 | pathogenic | -1.475 | Destabilizing | 0.996 | D | 0.706 | prob.neutral | None | None | None | None | N |
| I/D | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -2.026 | Highly Destabilizing | 0.987 | D | 0.829 | deleterious | None | None | None | None | N |
| I/E | 0.9925 | likely_pathogenic | 0.9938 | pathogenic | -1.758 | Destabilizing | 0.961 | D | 0.819 | deleterious | None | None | None | None | N |
| I/F | 0.5137 | ambiguous | 0.5597 | ambiguous | -1.068 | Destabilizing | 0.901 | D | 0.672 | neutral | N | 0.470292374 | None | None | N |
| I/G | 0.9876 | likely_pathogenic | 0.9911 | pathogenic | -2.688 | Highly Destabilizing | 0.961 | D | 0.811 | deleterious | None | None | None | None | N |
| I/H | 0.9919 | likely_pathogenic | 0.9933 | pathogenic | -2.264 | Highly Destabilizing | 0.996 | D | 0.812 | deleterious | None | None | None | None | N |
| I/K | 0.9894 | likely_pathogenic | 0.9909 | pathogenic | -1.349 | Destabilizing | 0.923 | D | 0.814 | deleterious | None | None | None | None | N |
| I/L | 0.1259 | likely_benign | 0.1552 | benign | -0.426 | Destabilizing | 0.003 | N | 0.322 | neutral | N | 0.414612567 | None | None | N |
| I/M | 0.2352 | likely_benign | 0.2853 | benign | -0.647 | Destabilizing | 0.075 | N | 0.497 | neutral | N | 0.481181381 | None | None | N |
| I/N | 0.9749 | likely_pathogenic | 0.9768 | pathogenic | -1.733 | Destabilizing | 0.949 | D | 0.831 | deleterious | N | 0.500299594 | None | None | N |
| I/P | 0.942 | likely_pathogenic | 0.9559 | pathogenic | -0.968 | Destabilizing | 0.987 | D | 0.828 | deleterious | None | None | None | None | N |
| I/Q | 0.9869 | likely_pathogenic | 0.9884 | pathogenic | -1.477 | Destabilizing | 0.961 | D | 0.831 | deleterious | None | None | None | None | N |
| I/R | 0.9849 | likely_pathogenic | 0.9868 | pathogenic | -1.39 | Destabilizing | 0.923 | D | 0.828 | deleterious | None | None | None | None | N |
| I/S | 0.9636 | likely_pathogenic | 0.9685 | pathogenic | -2.484 | Highly Destabilizing | 0.901 | D | 0.759 | deleterious | N | 0.485068948 | None | None | N |
| I/T | 0.9373 | likely_pathogenic | 0.9498 | pathogenic | -2.053 | Highly Destabilizing | 0.722 | D | 0.712 | prob.delet. | N | 0.48168836 | None | None | N |
| I/V | 0.0782 | likely_benign | 0.0927 | benign | -0.968 | Destabilizing | 0.008 | N | 0.297 | neutral | N | 0.388298332 | None | None | N |
| I/W | 0.9868 | likely_pathogenic | 0.9882 | pathogenic | -1.415 | Destabilizing | 0.996 | D | 0.83 | deleterious | None | None | None | None | N |
| I/Y | 0.9617 | likely_pathogenic | 0.9616 | pathogenic | -1.091 | Destabilizing | 0.961 | D | 0.738 | prob.delet. | 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.