Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26680 | 80263;80264;80265 | chr2:178566094;178566093;178566092 | chr2:179430821;179430820;179430819 |
| N2AB | 25039 | 75340;75341;75342 | chr2:178566094;178566093;178566092 | chr2:179430821;179430820;179430819 |
| N2A | 24112 | 72559;72560;72561 | chr2:178566094;178566093;178566092 | chr2:179430821;179430820;179430819 |
| N2B | 17615 | 53068;53069;53070 | chr2:178566094;178566093;178566092 | chr2:179430821;179430820;179430819 |
| Novex-1 | 17740 | 53443;53444;53445 | chr2:178566094;178566093;178566092 | chr2:179430821;179430820;179430819 |
| Novex-2 | 17807 | 53644;53645;53646 | chr2:178566094;178566093;178566092 | chr2:179430821;179430820;179430819 |
| 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/F | rs1396033871  |
None | 1.0 | D | 0.847 | 0.725 | 0.885871004568 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs1396033871 |
None | 1.0 | D | 0.847 | 0.725 | 0.885871004568 | gnomAD-4.0.0 | 6.57428E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47042E-05 | 0 | 0 |
| V/G | None | None | 1.0 | D | 0.775 | 0.862 | 0.928010517993 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41546E-04 | 0 | 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 | 0.9761 | likely_pathogenic | 0.9672 | pathogenic | -1.905 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | D | 0.642431294 | None | None | N |
| V/C | 0.9884 | likely_pathogenic | 0.9853 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/D | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -2.212 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.643036707 | None | None | N |
| V/E | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/F | 0.9767 | likely_pathogenic | 0.9689 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.626411933 | None | None | N |
| V/G | 0.972 | likely_pathogenic | 0.9657 | pathogenic | -2.244 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.643036707 | None | None | N |
| V/H | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| V/I | 0.1901 | likely_benign | 0.1717 | benign | -1.044 | Destabilizing | 0.997 | D | 0.703 | prob.neutral | D | 0.545086382 | None | None | N |
| V/K | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/L | 0.9598 | likely_pathogenic | 0.9518 | pathogenic | -1.044 | Destabilizing | 0.997 | D | 0.739 | prob.delet. | D | 0.640413252 | None | None | N |
| V/M | 0.9617 | likely_pathogenic | 0.9528 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/N | 0.9925 | likely_pathogenic | 0.9902 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/P | 0.9938 | likely_pathogenic | 0.9936 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/Q | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/R | 0.9957 | likely_pathogenic | 0.9947 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/S | 0.9878 | likely_pathogenic | 0.9825 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/T | 0.973 | likely_pathogenic | 0.9671 | pathogenic | -1.872 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| V/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| V/Y | 0.9961 | likely_pathogenic | 0.9951 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.857 | 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.