Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28928 | 87007;87008;87009 | chr2:178559350;178559349;178559348 | chr2:179424077;179424076;179424075 |
| N2AB | 27287 | 82084;82085;82086 | chr2:178559350;178559349;178559348 | chr2:179424077;179424076;179424075 |
| N2A | 26360 | 79303;79304;79305 | chr2:178559350;178559349;178559348 | chr2:179424077;179424076;179424075 |
| N2B | 19863 | 59812;59813;59814 | chr2:178559350;178559349;178559348 | chr2:179424077;179424076;179424075 |
| Novex-1 | 19988 | 60187;60188;60189 | chr2:178559350;178559349;178559348 | chr2:179424077;179424076;179424075 |
| Novex-2 | 20055 | 60388;60389;60390 | chr2:178559350;178559349;178559348 | chr2:179424077;179424076;179424075 |
| 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 | rs767722495  |
None | 1.0 | D | 0.695 | 0.653 | 0.451599300725 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/A | rs767722495 |
None | 1.0 | D | 0.695 | 0.653 | 0.451599300725 | gnomAD-4.0.0 | 2.4827E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39489E-06 | 0 | 0 |
| G/D | rs767722495 |
-1.495 | 1.0 | D | 0.867 | 0.734 | 0.541466613703 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/D | rs767722495 |
-1.495 | 1.0 | D | 0.867 | 0.734 | 0.541466613703 | gnomAD-4.0.0 | 4.79789E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30511E-06 | 0 | 0 |
| G/S | rs775579177 |
-1.122 | 1.0 | N | 0.807 | 0.513 | 0.308904156042 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs775579177 |
-1.122 | 1.0 | N | 0.807 | 0.513 | 0.308904156042 | gnomAD-4.0.0 | 4.7998E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.5537E-05 | None | 0 | 0 | 0 | 1.44613E-05 | 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 | 0.7585 | likely_pathogenic | 0.8195 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.530699931 | None | None | N |
| G/C | 0.9405 | likely_pathogenic | 0.9582 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.543070195 | None | None | N |
| G/D | 0.9916 | likely_pathogenic | 0.9936 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.542563216 | None | None | N |
| G/E | 0.9949 | likely_pathogenic | 0.9957 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/F | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.9957 | likely_pathogenic | 0.9965 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/K | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/L | 0.9939 | likely_pathogenic | 0.9949 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/M | 0.9961 | likely_pathogenic | 0.9969 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/N | 0.9879 | likely_pathogenic | 0.9904 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/P | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/Q | 0.9956 | likely_pathogenic | 0.9959 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/R | 0.9952 | likely_pathogenic | 0.9956 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.541549257 | None | None | N |
| G/S | 0.5175 | ambiguous | 0.5823 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.471754795 | None | None | N |
| G/T | 0.9475 | likely_pathogenic | 0.9614 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/V | 0.9885 | likely_pathogenic | 0.9912 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.542563216 | None | None | N |
| G/W | 0.9951 | likely_pathogenic | 0.9955 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/Y | 0.9968 | likely_pathogenic | 0.9971 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.865 | 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.