Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19558 | 58897;58898;58899 | chr2:178593628;178593627;178593626 | chr2:179458355;179458354;179458353 |
| N2AB | 17917 | 53974;53975;53976 | chr2:178593628;178593627;178593626 | chr2:179458355;179458354;179458353 |
| N2A | 16990 | 51193;51194;51195 | chr2:178593628;178593627;178593626 | chr2:179458355;179458354;179458353 |
| N2B | 10493 | 31702;31703;31704 | chr2:178593628;178593627;178593626 | chr2:179458355;179458354;179458353 |
| Novex-1 | 10618 | 32077;32078;32079 | chr2:178593628;178593627;178593626 | chr2:179458355;179458354;179458353 |
| Novex-2 | 10685 | 32278;32279;32280 | chr2:178593628;178593627;178593626 | chr2:179458355;179458354;179458353 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs1455635388  |
None | 1.0 | D | 0.763 | 0.563 | 0.28492961333 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs1455635388 |
None | 1.0 | D | 0.763 | 0.563 | 0.28492961333 | gnomAD-4.0.0 | 6.57445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47054E-05 | 0 | 0 |
| N/S | rs369224233 |
-1.396 | 0.999 | N | 0.601 | 0.589 | None | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs369224233 |
-1.396 | 0.999 | N | 0.601 | 0.589 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs369224233 |
-1.396 | 0.999 | N | 0.601 | 0.589 | None | gnomAD-4.0.0 | 3.84724E-06 | None | None | None | None | N | None | 5.07408E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/C | 0.9829 | likely_pathogenic | 0.9867 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| N/D | 0.9877 | likely_pathogenic | 0.9897 | pathogenic | -2.303 | Highly Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.54855288 | None | None | N |
| N/E | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.112 | Highly Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| N/F | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| N/G | 0.9932 | likely_pathogenic | 0.9939 | pathogenic | -1.318 | Destabilizing | 0.999 | D | 0.582 | neutral | None | None | None | None | N |
| N/H | 0.9894 | likely_pathogenic | 0.9907 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.549566838 | None | None | N |
| N/I | 0.9958 | likely_pathogenic | 0.9958 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.550073817 | None | None | N |
| N/K | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.53728548 | None | None | N |
| N/L | 0.9921 | likely_pathogenic | 0.9928 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| N/M | 0.9956 | likely_pathogenic | 0.996 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| N/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| N/Q | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| N/R | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/S | 0.9251 | likely_pathogenic | 0.9457 | pathogenic | -1.252 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.509809475 | None | None | N |
| N/T | 0.9652 | likely_pathogenic | 0.9762 | pathogenic | -0.905 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | N | 0.499664029 | None | None | N |
| N/V | 0.9954 | likely_pathogenic | 0.9959 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| N/Y | 0.9951 | likely_pathogenic | 0.9947 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.538299438 | 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.