Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22287 | 67084;67085;67086 | chr2:178580520;178580519;178580518 | chr2:179445247;179445246;179445245 |
| N2AB | 20646 | 62161;62162;62163 | chr2:178580520;178580519;178580518 | chr2:179445247;179445246;179445245 |
| N2A | 19719 | 59380;59381;59382 | chr2:178580520;178580519;178580518 | chr2:179445247;179445246;179445245 |
| N2B | 13222 | 39889;39890;39891 | chr2:178580520;178580519;178580518 | chr2:179445247;179445246;179445245 |
| Novex-1 | 13347 | 40264;40265;40266 | chr2:178580520;178580519;178580518 | chr2:179445247;179445246;179445245 |
| Novex-2 | 13414 | 40465;40466;40467 | chr2:178580520;178580519;178580518 | chr2:179445247;179445246;179445245 |
| 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/R | rs1268203596  |
-0.581 | 1.0 | D | 0.829 | 0.86 | 0.782007766743 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/R | rs1268203596 |
-0.581 | 1.0 | D | 0.829 | 0.86 | 0.782007766743 | gnomAD-4.0.0 | 3.4231E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49903E-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 | 0.8314 | likely_pathogenic | 0.8299 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.557660836 | None | None | I |
| G/C | 0.9817 | likely_pathogenic | 0.9835 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| G/D | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/E | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.629471153 | None | None | I |
| G/F | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/H | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/I | 0.9975 | likely_pathogenic | 0.9978 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/L | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/N | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Q | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/R | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.633103629 | None | None | I |
| G/S | 0.9523 | likely_pathogenic | 0.9562 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/T | 0.9937 | likely_pathogenic | 0.9946 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/V | 0.9921 | likely_pathogenic | 0.9931 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.633103629 | None | None | I |
| G/W | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/Y | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.796 | 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.