Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30552 | 91879;91880;91881 | chr2:178550184;178550183;178550182 | chr2:179414911;179414910;179414909 |
| N2AB | 28911 | 86956;86957;86958 | chr2:178550184;178550183;178550182 | chr2:179414911;179414910;179414909 |
| N2A | 27984 | 84175;84176;84177 | chr2:178550184;178550183;178550182 | chr2:179414911;179414910;179414909 |
| N2B | 21487 | 64684;64685;64686 | chr2:178550184;178550183;178550182 | chr2:179414911;179414910;179414909 |
| Novex-1 | 21612 | 65059;65060;65061 | chr2:178550184;178550183;178550182 | chr2:179414911;179414910;179414909 |
| Novex-2 | 21679 | 65260;65261;65262 | chr2:178550184;178550183;178550182 | chr2:179414911;179414910;179414909 |
| 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/V | None | None | 1.0 | D | 0.804 | 0.797 | 0.939761731016 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.8671 | likely_pathogenic | 0.8423 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.55835733 | None | None | I |
| G/C | 0.9806 | likely_pathogenic | 0.9749 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/D | 0.9954 | likely_pathogenic | 0.995 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/E | 0.9968 | likely_pathogenic | 0.9963 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.636668257 | None | None | I |
| G/F | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/I | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/L | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/N | 0.9975 | likely_pathogenic | 0.9968 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
| G/Q | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/R | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.656320095 | None | None | I |
| G/S | 0.9395 | likely_pathogenic | 0.9134 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/T | 0.9925 | likely_pathogenic | 0.9892 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/V | 0.991 | likely_pathogenic | 0.9894 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.640300734 | None | None | I |
| G/W | 0.9974 | likely_pathogenic | 0.9973 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/Y | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.798 | 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.