Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25325 | 76198;76199;76200 | chr2:178570159;178570158;178570157 | chr2:179434886;179434885;179434884 |
| N2AB | 23684 | 71275;71276;71277 | chr2:178570159;178570158;178570157 | chr2:179434886;179434885;179434884 |
| N2A | 22757 | 68494;68495;68496 | chr2:178570159;178570158;178570157 | chr2:179434886;179434885;179434884 |
| N2B | 16260 | 49003;49004;49005 | chr2:178570159;178570158;178570157 | chr2:179434886;179434885;179434884 |
| Novex-1 | 16385 | 49378;49379;49380 | chr2:178570159;178570158;178570157 | chr2:179434886;179434885;179434884 |
| Novex-2 | 16452 | 49579;49580;49581 | chr2:178570159;178570158;178570157 | chr2:179434886;179434885;179434884 |
| 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 | rs746749916  |
-1.706 | 1.0 | D | 0.877 | 0.813 | 0.862623283075 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30762E-04 | None | 0 | 0 | 0 |
| W/C | rs746749916 |
-1.706 | 1.0 | D | 0.877 | 0.813 | 0.862623283075 | gnomAD-4.0.0 | 1.43262E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.28966E-04 | 0 |
| W/R | rs1707625464 |
None | 1.0 | D | 0.921 | 0.848 | 0.945312082423 | gnomAD-4.0.0 | 1.3686E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99565E-07 | 0 | 1.65689E-05 |
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 | 0.9977 | likely_pathogenic | 0.9959 | pathogenic | -3.366 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/C | 0.9982 | likely_pathogenic | 0.9966 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.684597719 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.903 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.794 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/F | 0.7987 | likely_pathogenic | 0.7586 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/G | 0.9888 | likely_pathogenic | 0.9841 | pathogenic | -3.588 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.684597719 | None | None | N |
| W/H | 0.9987 | likely_pathogenic | 0.9979 | pathogenic | -2.719 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| W/I | 0.9968 | likely_pathogenic | 0.9936 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.024 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/L | 0.9868 | likely_pathogenic | 0.9802 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.667337172 | None | None | N |
| W/M | 0.9966 | likely_pathogenic | 0.9943 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.774 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.592 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -2.765 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.684597719 | None | None | N |
| W/S | 0.997 | likely_pathogenic | 0.9946 | pathogenic | -3.811 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.684597719 | None | None | N |
| W/T | 0.9983 | likely_pathogenic | 0.9967 | pathogenic | -3.631 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/V | 0.9964 | likely_pathogenic | 0.9932 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/Y | 0.9699 | likely_pathogenic | 0.9585 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.806 | 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.