Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22827 | 68704;68705;68706 | chr2:178578036;178578035;178578034 | chr2:179442763;179442762;179442761 |
| N2AB | 21186 | 63781;63782;63783 | chr2:178578036;178578035;178578034 | chr2:179442763;179442762;179442761 |
| N2A | 20259 | 61000;61001;61002 | chr2:178578036;178578035;178578034 | chr2:179442763;179442762;179442761 |
| N2B | 13762 | 41509;41510;41511 | chr2:178578036;178578035;178578034 | chr2:179442763;179442762;179442761 |
| Novex-1 | 13887 | 41884;41885;41886 | chr2:178578036;178578035;178578034 | chr2:179442763;179442762;179442761 |
| Novex-2 | 13954 | 42085;42086;42087 | chr2:178578036;178578035;178578034 | chr2:179442763;179442762;179442761 |
| 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/S | rs781403843  |
-1.294 | 1.0 | N | 0.809 | 0.445 | 0.281780670237 | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | I | None | 0 | 2.03004E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs781403843 |
-1.294 | 1.0 | N | 0.809 | 0.445 | 0.281780670237 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs781403843 |
-1.294 | 1.0 | N | 0.809 | 0.445 | 0.281780670237 | gnomAD-4.0.0 | 9.29906E-06 | None | None | None | None | I | None | 0 | 1.50085E-04 | None | 0 | 0 | None | 0 | 4.93908E-04 | 0 | 1.09837E-05 | 3.20359E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6411 | likely_pathogenic | 0.6857 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.522743305 | None | None | I |
| G/C | 0.913 | likely_pathogenic | 0.9274 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.547394927 | None | None | I |
| G/D | 0.9893 | likely_pathogenic | 0.9921 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.528276713 | None | None | I |
| G/E | 0.992 | likely_pathogenic | 0.9941 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/F | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/H | 0.9943 | likely_pathogenic | 0.9956 | pathogenic | -1.47 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/I | 0.9954 | likely_pathogenic | 0.9969 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/K | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/L | 0.991 | likely_pathogenic | 0.9941 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/M | 0.9938 | likely_pathogenic | 0.9955 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/N | 0.9856 | likely_pathogenic | 0.9874 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/Q | 0.9915 | likely_pathogenic | 0.9938 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/R | 0.9931 | likely_pathogenic | 0.9955 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.523757263 | None | None | I |
| G/S | 0.2725 | likely_benign | 0.2747 | benign | -1.366 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.423419344 | None | None | I |
| G/T | 0.9028 | likely_pathogenic | 0.9147 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/V | 0.9873 | likely_pathogenic | 0.9915 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.546887948 | None | None | I |
| G/W | 0.9946 | likely_pathogenic | 0.9962 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/Y | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.874 | 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.