Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26116 | 78571;78572;78573 | chr2:178567786;178567785;178567784 | chr2:179432513;179432512;179432511 |
| N2AB | 24475 | 73648;73649;73650 | chr2:178567786;178567785;178567784 | chr2:179432513;179432512;179432511 |
| N2A | 23548 | 70867;70868;70869 | chr2:178567786;178567785;178567784 | chr2:179432513;179432512;179432511 |
| N2B | 17051 | 51376;51377;51378 | chr2:178567786;178567785;178567784 | chr2:179432513;179432512;179432511 |
| Novex-1 | 17176 | 51751;51752;51753 | chr2:178567786;178567785;178567784 | chr2:179432513;179432512;179432511 |
| Novex-2 | 17243 | 51952;51953;51954 | chr2:178567786;178567785;178567784 | chr2:179432513;179432512;179432511 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1471014707  |
-0.119 | 1.0 | D | 0.733 | 0.66 | 0.40218521252 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 1.65837E-04 |
| G/A | rs1471014707 |
-0.119 | 1.0 | D | 0.733 | 0.66 | 0.40218521252 | gnomAD-4.0.0 | 2.05301E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6988E-06 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.827 | 0.703 | 0.446913017954 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7992E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9644 | likely_pathogenic | 0.9528 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.52204011 | None | None | I |
| G/C | 0.9875 | likely_pathogenic | 0.9828 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.549805603 | None | None | I |
| G/D | 0.9976 | likely_pathogenic | 0.9968 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.521026152 | None | None | I |
| G/E | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/F | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/H | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/L | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/M | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.9976 | likely_pathogenic | 0.9967 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/R | 0.9939 | likely_pathogenic | 0.9923 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.503428876 | None | None | I |
| G/S | 0.96 | likely_pathogenic | 0.9419 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.517810148 | None | None | I |
| G/T | 0.9945 | likely_pathogenic | 0.993 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/V | 0.997 | likely_pathogenic | 0.9962 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.515318613 | None | None | I |
| G/W | 0.9982 | likely_pathogenic | 0.9974 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Y | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
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.