Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31671 | 95236;95237;95238 | chr2:178546320;178546319;178546318 | chr2:179411047;179411046;179411045 |
| N2AB | 30030 | 90313;90314;90315 | chr2:178546320;178546319;178546318 | chr2:179411047;179411046;179411045 |
| N2A | 29103 | 87532;87533;87534 | chr2:178546320;178546319;178546318 | chr2:179411047;179411046;179411045 |
| N2B | 22606 | 68041;68042;68043 | chr2:178546320;178546319;178546318 | chr2:179411047;179411046;179411045 |
| Novex-1 | 22731 | 68416;68417;68418 | chr2:178546320;178546319;178546318 | chr2:179411047;179411046;179411045 |
| Novex-2 | 22798 | 68617;68618;68619 | chr2:178546320;178546319;178546318 | chr2:179411047;179411046;179411045 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1225295047  |
0.092 | 1.0 | N | 0.832 | 0.482 | 0.304435445954 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs1225295047 |
0.092 | 1.0 | N | 0.832 | 0.482 | 0.304435445954 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7299 | likely_pathogenic | 0.7219 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/D | 0.9908 | likely_pathogenic | 0.9904 | pathogenic | -2.197 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/E | 0.986 | likely_pathogenic | 0.986 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.5142567 | None | None | N |
| A/F | 0.9213 | likely_pathogenic | 0.9014 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/G | 0.3578 | ambiguous | 0.3351 | benign | -1.393 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.485453945 | None | None | N |
| A/H | 0.9859 | likely_pathogenic | 0.9847 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/I | 0.8273 | likely_pathogenic | 0.8141 | pathogenic | 0.533 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/K | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/L | 0.7413 | likely_pathogenic | 0.7365 | pathogenic | 0.533 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/M | 0.7963 | likely_pathogenic | 0.7836 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/N | 0.9705 | likely_pathogenic | 0.9667 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/P | 0.991 | likely_pathogenic | 0.9917 | pathogenic | 0.11 | Stabilizing | 1.0 | D | 0.832 | deleterious | N | 0.465593616 | None | None | N |
| A/Q | 0.9735 | likely_pathogenic | 0.9725 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/R | 0.9871 | likely_pathogenic | 0.9871 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/S | 0.3433 | ambiguous | 0.334 | benign | -1.749 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.434254334 | None | None | N |
| A/T | 0.4227 | ambiguous | 0.4159 | ambiguous | -1.384 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.407107805 | None | None | N |
| A/V | 0.4858 | ambiguous | 0.4782 | ambiguous | 0.11 | Stabilizing | 1.0 | D | 0.636 | neutral | N | 0.498151097 | None | None | N |
| A/W | 0.9941 | likely_pathogenic | 0.9927 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/Y | 0.9713 | likely_pathogenic | 0.9646 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.88 | 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.