Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26711 | 80356;80357;80358 | chr2:178566001;178566000;178565999 | chr2:179430728;179430727;179430726 |
| N2AB | 25070 | 75433;75434;75435 | chr2:178566001;178566000;178565999 | chr2:179430728;179430727;179430726 |
| N2A | 24143 | 72652;72653;72654 | chr2:178566001;178566000;178565999 | chr2:179430728;179430727;179430726 |
| N2B | 17646 | 53161;53162;53163 | chr2:178566001;178566000;178565999 | chr2:179430728;179430727;179430726 |
| Novex-1 | 17771 | 53536;53537;53538 | chr2:178566001;178566000;178565999 | chr2:179430728;179430727;179430726 |
| Novex-2 | 17838 | 53737;53738;53739 | chr2:178566001;178566000;178565999 | chr2:179430728;179430727;179430726 |
| 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/R | rs2154165266  |
None | 1.0 | D | 0.83 | 0.734 | 0.602958996521 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9682 | likely_pathogenic | 0.9709 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.524062161 | None | None | I |
| G/C | 0.9916 | likely_pathogenic | 0.9926 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/D | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/E | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.549799739 | None | None | I |
| G/F | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/I | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/L | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Q | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/R | 0.9958 | likely_pathogenic | 0.9953 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.532202463 | None | None | I |
| G/S | 0.9652 | likely_pathogenic | 0.9663 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/T | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/V | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.528443481 | None | None | I |
| G/W | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
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.