Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30992 | 93199;93200;93201 | chr2:178548652;178548651;178548650 | chr2:179413379;179413378;179413377 |
| N2AB | 29351 | 88276;88277;88278 | chr2:178548652;178548651;178548650 | chr2:179413379;179413378;179413377 |
| N2A | 28424 | 85495;85496;85497 | chr2:178548652;178548651;178548650 | chr2:179413379;179413378;179413377 |
| N2B | 21927 | 66004;66005;66006 | chr2:178548652;178548651;178548650 | chr2:179413379;179413378;179413377 |
| Novex-1 | 22052 | 66379;66380;66381 | chr2:178548652;178548651;178548650 | chr2:179413379;179413378;179413377 |
| Novex-2 | 22119 | 66580;66581;66582 | chr2:178548652;178548651;178548650 | chr2:179413379;179413378;179413377 |
| 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 | rs1277609891  |
-0.544 | 1.0 | D | 0.79 | 0.843 | 0.868346106997 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/R | rs1277609891 |
-0.544 | 1.0 | D | 0.79 | 0.843 | 0.868346106997 | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-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 | 0.8397 | likely_pathogenic | 0.8395 | pathogenic | -0.614 | Destabilizing | 0.999 | D | 0.741 | deleterious | D | 0.576559049 | None | None | I |
| G/C | 0.9615 | likely_pathogenic | 0.9586 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| G/D | 0.9804 | likely_pathogenic | 0.9819 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/E | 0.9895 | likely_pathogenic | 0.9884 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.632782178 | None | None | I |
| G/F | 0.9964 | likely_pathogenic | 0.9963 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/H | 0.9968 | likely_pathogenic | 0.9966 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/I | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/K | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/L | 0.9925 | likely_pathogenic | 0.9924 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/M | 0.9954 | likely_pathogenic | 0.9951 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| G/N | 0.9879 | likely_pathogenic | 0.9883 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Q | 0.9884 | likely_pathogenic | 0.9881 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/R | 0.9881 | likely_pathogenic | 0.9867 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.632580374 | None | None | I |
| G/S | 0.802 | likely_pathogenic | 0.7983 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/T | 0.9813 | likely_pathogenic | 0.9784 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/V | 0.9903 | likely_pathogenic | 0.9878 | pathogenic | -0.29 | Destabilizing | 0.989 | D | 0.725 | prob.delet. | D | 0.632782178 | None | None | I |
| G/W | 0.9946 | likely_pathogenic | 0.9937 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.632983983 | None | None | I |
| G/Y | 0.9961 | likely_pathogenic | 0.9959 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.799 | 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.