Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15063 | 45412;45413;45414 | chr2:178621637;178621636;178621635 | chr2:179486364;179486363;179486362 |
| N2AB | 13422 | 40489;40490;40491 | chr2:178621637;178621636;178621635 | chr2:179486364;179486363;179486362 |
| N2A | 12495 | 37708;37709;37710 | chr2:178621637;178621636;178621635 | chr2:179486364;179486363;179486362 |
| N2B | 5998 | 18217;18218;18219 | chr2:178621637;178621636;178621635 | chr2:179486364;179486363;179486362 |
| Novex-1 | 6123 | 18592;18593;18594 | chr2:178621637;178621636;178621635 | chr2:179486364;179486363;179486362 |
| Novex-2 | 6190 | 18793;18794;18795 | chr2:178621637;178621636;178621635 | chr2:179486364;179486363;179486362 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.884 | 0.9 | 0.953210753606 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9936 | likely_pathogenic | 0.9913 | pathogenic | -3.045 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/C | 0.993 | likely_pathogenic | 0.9929 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.782264803 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -3.686 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.572 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/F | 0.5747 | likely_pathogenic | 0.5951 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/G | 0.9803 | likely_pathogenic | 0.9734 | pathogenic | -3.275 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.782335943 | None | None | N |
| W/H | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -2.464 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/I | 0.9695 | likely_pathogenic | 0.9582 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.691 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/L | 0.9112 | likely_pathogenic | 0.8942 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.782335943 | None | None | N |
| W/M | 0.9888 | likely_pathogenic | 0.9853 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/N | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -3.451 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/P | 0.9967 | likely_pathogenic | 0.9965 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.256 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.782264803 | None | None | N |
| W/S | 0.9923 | likely_pathogenic | 0.9879 | pathogenic | -3.484 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.782264803 | None | None | N |
| W/T | 0.9933 | likely_pathogenic | 0.9898 | pathogenic | -3.296 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/V | 0.9774 | likely_pathogenic | 0.9688 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/Y | 0.9162 | likely_pathogenic | 0.9138 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.766 | 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.