Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10084 | 30475;30476;30477 | chr2:178702637;178702636;178702635 | chr2:179567364;179567363;179567362 |
| N2AB | 9767 | 29524;29525;29526 | chr2:178702637;178702636;178702635 | chr2:179567364;179567363;179567362 |
| N2A | 8840 | 26743;26744;26745 | chr2:178702637;178702636;178702635 | chr2:179567364;179567363;179567362 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | 1.0 | None | 0.732 | 0.349 | 0.412064437402 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | None | None | 0.993 | None | 0.33 | 0.365 | 0.67736492023 | gnomAD-4.0.0 | 3.42109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59802E-06 | 1.1595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9933 | likely_pathogenic | 0.9942 | pathogenic | -1.995 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| I/C | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| I/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| I/E | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| I/F | 0.9396 | likely_pathogenic | 0.9606 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| I/G | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.568 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| I/H | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.235 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| I/K | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| I/L | 0.5441 | ambiguous | 0.4798 | ambiguous | -0.33 | Destabilizing | 0.993 | D | 0.366 | neutral | None | None | None | None | N |
| I/M | 0.716 | likely_pathogenic | 0.7077 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| I/N | 0.995 | likely_pathogenic | 0.9958 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| I/P | 0.987 | likely_pathogenic | 0.9882 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| I/Q | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| I/R | 0.9967 | likely_pathogenic | 0.9975 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| I/S | 0.995 | likely_pathogenic | 0.9959 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| I/T | 0.9959 | likely_pathogenic | 0.9968 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| I/V | 0.7531 | likely_pathogenic | 0.7671 | pathogenic | -0.867 | Destabilizing | 0.993 | D | 0.33 | neutral | None | None | None | None | N |
| I/W | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| I/Y | 0.9955 | likely_pathogenic | 0.9969 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.783 | 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.