Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6418 | 19477;19478;19479 | chr2:178728674;178728673;178728672 | chr2:179593401;179593400;179593399 |
| N2AB | 6101 | 18526;18527;18528 | chr2:178728674;178728673;178728672 | chr2:179593401;179593400;179593399 |
| N2A | 5174 | 15745;15746;15747 | chr2:178728674;178728673;178728672 | chr2:179593401;179593400;179593399 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | rs1255477670  |
-1.715 | 1.0 | D | 0.808 | 0.797 | 0.961067375456 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/L | rs1255477670 |
-1.715 | 1.0 | D | 0.808 | 0.797 | 0.961067375456 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 2.28927E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9875 | likely_pathogenic | 0.9807 | pathogenic | -2.851 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/C | 0.9934 | likely_pathogenic | 0.9884 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.716298837 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -3.489 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -3.369 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/F | 0.5925 | likely_pathogenic | 0.5507 | ambiguous | -2.004 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/G | 0.9632 | likely_pathogenic | 0.9475 | pathogenic | -3.082 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.716097033 | None | None | N |
| W/H | 0.9958 | likely_pathogenic | 0.9939 | pathogenic | -2.553 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/I | 0.9419 | likely_pathogenic | 0.9267 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -2.548 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/L | 0.8725 | likely_pathogenic | 0.8412 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.716097033 | None | None | N |
| W/M | 0.9719 | likely_pathogenic | 0.9613 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/N | 0.9985 | likely_pathogenic | 0.9975 | pathogenic | -3.301 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/P | 0.9979 | likely_pathogenic | 0.9971 | pathogenic | -2.288 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/Q | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -3.058 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9985 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.716298837 | None | None | N |
| W/S | 0.9895 | likely_pathogenic | 0.9822 | pathogenic | -3.32 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.716298837 | None | None | N |
| W/T | 0.9923 | likely_pathogenic | 0.9873 | pathogenic | -3.121 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/V | 0.9477 | likely_pathogenic | 0.9318 | pathogenic | -2.288 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/Y | 0.871 | likely_pathogenic | 0.8401 | pathogenic | -1.9 | Destabilizing | 1.0 | D | 0.819 | 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.