Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15779 | 47560;47561;47562 | chr2:178618016;178618015;178618014 | chr2:179482743;179482742;179482741 |
| N2AB | 14138 | 42637;42638;42639 | chr2:178618016;178618015;178618014 | chr2:179482743;179482742;179482741 |
| N2A | 13211 | 39856;39857;39858 | chr2:178618016;178618015;178618014 | chr2:179482743;179482742;179482741 |
| N2B | 6714 | 20365;20366;20367 | chr2:178618016;178618015;178618014 | chr2:179482743;179482742;179482741 |
| Novex-1 | 6839 | 20740;20741;20742 | chr2:178618016;178618015;178618014 | chr2:179482743;179482742;179482741 |
| Novex-2 | 6906 | 20941;20942;20943 | chr2:178618016;178618015;178618014 | chr2:179482743;179482742;179482741 |
| 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 | 0.821 | 0.825 | 0.823096669049 | gnomAD-4.0.0 | 1.36939E-06 | None | None | None | None | N | None | 2.99383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65848E-05 |
| W/L | None | None | 1.0 | D | 0.832 | 0.807 | 0.863506238786 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-06 | 0 | 0 |
| W/R | rs1350573127  |
-2.147 | 1.0 | D | 0.899 | 0.918 | 0.869005348214 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| W/R | rs1350573127 |
-2.147 | 1.0 | D | 0.899 | 0.918 | 0.869005348214 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1350573127 |
-2.147 | 1.0 | D | 0.899 | 0.918 | 0.869005348214 | gnomAD-4.0.0 | 6.84686E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99905E-07 | 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 | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -3.13 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/C | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.812588583 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.674 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.548 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/F | 0.6839 | likely_pathogenic | 0.7346 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/G | 0.9847 | likely_pathogenic | 0.984 | pathogenic | -3.387 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.812588583 | None | None | N |
| W/H | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -2.549 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/I | 0.9893 | likely_pathogenic | 0.9903 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.731 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/L | 0.9727 | likely_pathogenic | 0.9724 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.781746275 | None | None | N |
| W/M | 0.9928 | likely_pathogenic | 0.9933 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.504 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.286 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.54 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.812588583 | None | None | N |
| W/S | 0.9966 | likely_pathogenic | 0.9959 | pathogenic | -3.607 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.812588583 | None | None | N |
| W/T | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -3.4 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| W/V | 0.9869 | likely_pathogenic | 0.9874 | pathogenic | -2.504 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/Y | 0.9543 | likely_pathogenic | 0.9523 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.824 | 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.