Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19550 | 58873;58874;58875 | chr2:178593652;178593651;178593650 | chr2:179458379;179458378;179458377 |
| N2AB | 17909 | 53950;53951;53952 | chr2:178593652;178593651;178593650 | chr2:179458379;179458378;179458377 |
| N2A | 16982 | 51169;51170;51171 | chr2:178593652;178593651;178593650 | chr2:179458379;179458378;179458377 |
| N2B | 10485 | 31678;31679;31680 | chr2:178593652;178593651;178593650 | chr2:179458379;179458378;179458377 |
| Novex-1 | 10610 | 32053;32054;32055 | chr2:178593652;178593651;178593650 | chr2:179458379;179458378;179458377 |
| Novex-2 | 10677 | 32254;32255;32256 | chr2:178593652;178593651;178593650 | chr2:179458379;179458378;179458377 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs770314252  |
-1.652 | 1.0 | D | 0.877 | 0.857 | 0.895564509889 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| Y/C | rs770314252 |
-1.652 | 1.0 | D | 0.877 | 0.857 | 0.895564509889 | 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 |
| Y/C | rs770314252 |
-1.652 | 1.0 | D | 0.877 | 0.857 | 0.895564509889 | gnomAD-4.0.0 | 1.17788E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23894E-05 | None | 0 | 0 | 1.44118E-05 | 0 | 1.60195E-05 |
| Y/D | None | None | 1.0 | D | 0.877 | 0.896 | 0.837468629341 | gnomAD-4.0.0 | 1.59279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43336E-05 | 0 |
| Y/H | rs2154186587 |
None | 1.0 | D | 0.818 | 0.862 | 0.802906345537 | 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 |
| Y/H | rs2154186587 |
None | 1.0 | D | 0.818 | 0.862 | 0.802906345537 | gnomAD-4.0.0 | 2.56394E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78854E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9899 | likely_pathogenic | 0.9855 | pathogenic | -3.459 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/C | 0.8434 | likely_pathogenic | 0.7753 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.636486044 | None | None | N |
| Y/D | 0.9863 | likely_pathogenic | 0.9815 | pathogenic | -3.8 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.668756931 | None | None | N |
| Y/E | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -3.609 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/F | 0.2216 | likely_benign | 0.1955 | benign | -1.336 | Destabilizing | 0.999 | D | 0.75 | deleterious | D | 0.609363859 | None | None | N |
| Y/G | 0.9749 | likely_pathogenic | 0.9711 | pathogenic | -3.855 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| Y/H | 0.9406 | likely_pathogenic | 0.9165 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.668756931 | None | None | N |
| Y/I | 0.9206 | likely_pathogenic | 0.9033 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/K | 0.9964 | likely_pathogenic | 0.9958 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/L | 0.8945 | likely_pathogenic | 0.8808 | pathogenic | -2.129 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/M | 0.9632 | likely_pathogenic | 0.9542 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| Y/N | 0.9311 | likely_pathogenic | 0.9047 | pathogenic | -3.382 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.668555127 | None | None | N |
| Y/P | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -2.589 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| Y/Q | 0.9956 | likely_pathogenic | 0.9938 | pathogenic | -3.17 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| Y/R | 0.9885 | likely_pathogenic | 0.9864 | pathogenic | -2.238 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/S | 0.9613 | likely_pathogenic | 0.9458 | pathogenic | -3.701 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.668756931 | None | None | N |
| Y/T | 0.9807 | likely_pathogenic | 0.9739 | pathogenic | -3.402 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/V | 0.8565 | likely_pathogenic | 0.8257 | pathogenic | -2.589 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| Y/W | 0.8274 | likely_pathogenic | 0.8177 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.805 | 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.