Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24173 | 72742;72743;72744 | chr2:178573615;178573614;178573613 | chr2:179438342;179438341;179438340 |
| N2AB | 22532 | 67819;67820;67821 | chr2:178573615;178573614;178573613 | chr2:179438342;179438341;179438340 |
| N2A | 21605 | 65038;65039;65040 | chr2:178573615;178573614;178573613 | chr2:179438342;179438341;179438340 |
| N2B | 15108 | 45547;45548;45549 | chr2:178573615;178573614;178573613 | chr2:179438342;179438341;179438340 |
| Novex-1 | 15233 | 45922;45923;45924 | chr2:178573615;178573614;178573613 | chr2:179438342;179438341;179438340 |
| Novex-2 | 15300 | 46123;46124;46125 | chr2:178573615;178573614;178573613 | chr2:179438342;179438341;179438340 |
| 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 | rs1260315259  |
None | 0.999 | N | 0.585 | 0.411 | 0.640634255683 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1260315259 |
None | 0.999 | N | 0.585 | 0.411 | 0.640634255683 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1709023380 |
None | 0.997 | N | 0.509 | 0.276 | 0.569670436194 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs1709023380 |
None | 0.997 | N | 0.509 | 0.276 | 0.569670436194 | gnomAD-4.0.0 | 4.66802E-06 | None | None | None | None | N | None | 1.4017E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.32371E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2859 | likely_benign | 0.3241 | benign | -1.272 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.480016065 | None | None | N |
| V/C | 0.8503 | likely_pathogenic | 0.8809 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| V/D | 0.9484 | likely_pathogenic | 0.9572 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/E | 0.8947 | likely_pathogenic | 0.9064 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.502386281 | None | None | N |
| V/F | 0.5007 | ambiguous | 0.5529 | ambiguous | -1.004 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/G | 0.6994 | likely_pathogenic | 0.7321 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.51789687 | None | None | N |
| V/H | 0.9628 | likely_pathogenic | 0.9697 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/I | 0.0942 | likely_benign | 0.0989 | benign | -0.576 | Destabilizing | 0.997 | D | 0.509 | neutral | N | 0.46797497 | None | None | N |
| V/K | 0.9618 | likely_pathogenic | 0.9637 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/L | 0.5177 | ambiguous | 0.5513 | ambiguous | -0.576 | Destabilizing | 0.997 | D | 0.564 | neutral | N | 0.519172235 | None | None | N |
| V/M | 0.3391 | likely_benign | 0.3856 | ambiguous | -0.556 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/N | 0.8809 | likely_pathogenic | 0.9064 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/P | 0.9703 | likely_pathogenic | 0.9694 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/Q | 0.9093 | likely_pathogenic | 0.9217 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/R | 0.9459 | likely_pathogenic | 0.9472 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/S | 0.6333 | likely_pathogenic | 0.6856 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/T | 0.3531 | ambiguous | 0.4078 | ambiguous | -1.352 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| V/W | 0.9845 | likely_pathogenic | 0.9859 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Y | 0.9086 | likely_pathogenic | 0.9248 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.829 | 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.