Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33621 | 101086;101087;101088 | chr2:178535754;178535753;178535752 | chr2:179400481;179400480;179400479 |
| N2AB | 31980 | 96163;96164;96165 | chr2:178535754;178535753;178535752 | chr2:179400481;179400480;179400479 |
| N2A | 31053 | 93382;93383;93384 | chr2:178535754;178535753;178535752 | chr2:179400481;179400480;179400479 |
| N2B | 24556 | 73891;73892;73893 | chr2:178535754;178535753;178535752 | chr2:179400481;179400480;179400479 |
| Novex-1 | 24681 | 74266;74267;74268 | chr2:178535754;178535753;178535752 | chr2:179400481;179400480;179400479 |
| Novex-2 | 24748 | 74467;74468;74469 | chr2:178535754;178535753;178535752 | chr2:179400481;179400480;179400479 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.837 | 0.848 | 0.641499568738 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9712 | likely_pathogenic | 0.9209 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.557807563 | None | None | N |
| G/C | 0.9964 | likely_pathogenic | 0.9871 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.607504797 | None | None | N |
| G/D | 0.9991 | likely_pathogenic | 0.9965 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.606293971 | None | None | N |
| G/E | 0.9992 | likely_pathogenic | 0.9975 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/F | 0.9997 | likely_pathogenic | 0.9989 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/H | 0.9998 | likely_pathogenic | 0.9994 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/I | 0.9993 | likely_pathogenic | 0.997 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/K | 0.9997 | likely_pathogenic | 0.999 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/L | 0.9994 | likely_pathogenic | 0.9976 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/M | 0.9998 | likely_pathogenic | 0.9991 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| G/N | 0.9995 | likely_pathogenic | 0.998 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9993 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Q | 0.9995 | likely_pathogenic | 0.9983 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/R | 0.9986 | likely_pathogenic | 0.9963 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.607101189 | None | None | N |
| G/S | 0.9773 | likely_pathogenic | 0.9306 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.564938303 | None | None | N |
| G/T | 0.9973 | likely_pathogenic | 0.991 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/V | 0.9979 | likely_pathogenic | 0.9928 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.607101189 | None | None | N |
| G/W | 0.9993 | likely_pathogenic | 0.998 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9997 | likely_pathogenic | 0.9991 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.773 | 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.