Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13811 | 41656;41657;41658 | chr2:178636140;178636139;178636138 | chr2:179500867;179500866;179500865 |
| N2AB | 12170 | 36733;36734;36735 | chr2:178636140;178636139;178636138 | chr2:179500867;179500866;179500865 |
| N2A | 11243 | 33952;33953;33954 | chr2:178636140;178636139;178636138 | chr2:179500867;179500866;179500865 |
| N2B | 4746 | 14461;14462;14463 | chr2:178636140;178636139;178636138 | chr2:179500867;179500866;179500865 |
| Novex-1 | 4871 | 14836;14837;14838 | chr2:178636140;178636139;178636138 | chr2:179500867;179500866;179500865 |
| Novex-2 | 4938 | 15037;15038;15039 | chr2:178636140;178636139;178636138 | chr2:179500867;179500866;179500865 |
| 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/I | rs920253062  |
None | 0.543 | N | 0.293 | 0.118 | 0.246215685461 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs920253062 |
None | 0.543 | N | 0.293 | 0.118 | 0.246215685461 | gnomAD-4.0.0 | 1.3153E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94144E-05 | 0 | 0 |
| V/L | None | None | 0.948 | N | 0.509 | 0.12 | 0.384419519794 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6523 | likely_pathogenic | 0.5751 | pathogenic | -1.355 | Destabilizing | 0.973 | D | 0.598 | neutral | N | 0.334720111 | None | None | N |
| V/C | 0.9363 | likely_pathogenic | 0.9163 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| V/D | 0.9032 | likely_pathogenic | 0.8536 | pathogenic | -1.158 | Destabilizing | 0.998 | D | 0.753 | deleterious | N | 0.34656658 | None | None | N |
| V/E | 0.7551 | likely_pathogenic | 0.6843 | pathogenic | -1.162 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/F | 0.4439 | ambiguous | 0.3893 | ambiguous | -0.994 | Destabilizing | 0.998 | D | 0.605 | neutral | N | 0.332466908 | None | None | N |
| V/G | 0.7963 | likely_pathogenic | 0.7115 | pathogenic | -1.663 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | N | 0.346928062 | None | None | N |
| V/H | 0.9084 | likely_pathogenic | 0.8681 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.706 | prob.delet. | None | None | None | None | N |
| V/I | 0.0954 | likely_benign | 0.0917 | benign | -0.613 | Destabilizing | 0.543 | D | 0.293 | neutral | N | 0.34640932 | None | None | N |
| V/K | 0.7859 | likely_pathogenic | 0.7163 | pathogenic | -1.184 | Destabilizing | 0.999 | D | 0.707 | prob.delet. | None | None | None | None | N |
| V/L | 0.4529 | ambiguous | 0.4035 | ambiguous | -0.613 | Destabilizing | 0.948 | D | 0.509 | neutral | N | 0.340589003 | None | None | N |
| V/M | 0.3901 | ambiguous | 0.3523 | ambiguous | -0.474 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | N |
| V/N | 0.782 | likely_pathogenic | 0.7237 | pathogenic | -0.925 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| V/P | 0.992 | likely_pathogenic | 0.9861 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.687 | prob.delet. | None | None | None | None | N |
| V/Q | 0.7323 | likely_pathogenic | 0.6671 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.69 | prob.delet. | None | None | None | None | N |
| V/R | 0.7381 | likely_pathogenic | 0.658 | pathogenic | -0.637 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| V/S | 0.6971 | likely_pathogenic | 0.6242 | pathogenic | -1.422 | Destabilizing | 0.995 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/T | 0.4885 | ambiguous | 0.4189 | ambiguous | -1.32 | Destabilizing | 0.611 | D | 0.327 | neutral | None | None | None | None | N |
| V/W | 0.9734 | likely_pathogenic | 0.9647 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.66 | prob.neutral | None | None | None | None | N |
| V/Y | 0.864 | likely_pathogenic | 0.8292 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.581 | neutral | 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.