Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24144 | 72655;72656;72657 | chr2:178573702;178573701;178573700 | chr2:179438429;179438428;179438427 |
| N2AB | 22503 | 67732;67733;67734 | chr2:178573702;178573701;178573700 | chr2:179438429;179438428;179438427 |
| N2A | 21576 | 64951;64952;64953 | chr2:178573702;178573701;178573700 | chr2:179438429;179438428;179438427 |
| N2B | 15079 | 45460;45461;45462 | chr2:178573702;178573701;178573700 | chr2:179438429;179438428;179438427 |
| Novex-1 | 15204 | 45835;45836;45837 | chr2:178573702;178573701;178573700 | chr2:179438429;179438428;179438427 |
| Novex-2 | 15271 | 46036;46037;46038 | chr2:178573702;178573701;178573700 | chr2:179438429;179438428;179438427 |
| 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/C | None | None | 1.0 | D | 0.859 | 0.747 | 0.813413921934 | 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 |
| W/R | rs554779387  |
-2.315 | 1.0 | D | 0.909 | 0.873 | 0.913760290019 | gnomAD-2.1.1 | 5.31E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.11E-05 | None | 0 | 0 | 0 |
| W/R | rs554779387 |
-2.315 | 1.0 | D | 0.909 | 0.873 | 0.913760290019 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| W/R | rs554779387 |
-2.315 | 1.0 | D | 0.909 | 0.873 | 0.913760290019 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| W/R | rs554779387 |
-2.315 | 1.0 | D | 0.909 | 0.873 | 0.913760290019 | gnomAD-4.0.0 | 1.82183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.20174E-06 | 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 | 0.9942 | likely_pathogenic | 0.9955 | pathogenic | -3.132 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/C | 0.9944 | likely_pathogenic | 0.9958 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.682893999 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.702 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.576 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/F | 0.6998 | likely_pathogenic | 0.7812 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/G | 0.9776 | likely_pathogenic | 0.9816 | pathogenic | -3.384 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.682893999 | None | None | N |
| W/H | 0.9956 | likely_pathogenic | 0.9963 | pathogenic | -2.619 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/I | 0.9845 | likely_pathogenic | 0.9897 | pathogenic | -2.167 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.047 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/L | 0.9652 | likely_pathogenic | 0.9759 | pathogenic | -2.167 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.681683173 | None | None | N |
| W/M | 0.9945 | likely_pathogenic | 0.9963 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.851 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.587 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/R | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.919 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.682893999 | None | None | N |
| W/S | 0.9892 | likely_pathogenic | 0.9912 | pathogenic | -3.921 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.666642473 | None | None | N |
| W/T | 0.9959 | likely_pathogenic | 0.9971 | pathogenic | -3.718 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/V | 0.9838 | likely_pathogenic | 0.9891 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/Y | 0.9153 | likely_pathogenic | 0.9341 | pathogenic | -1.998 | Destabilizing | 1.0 | D | 0.835 | 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.