Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20456 | 61591;61592;61593 | chr2:178590359;178590358;178590357 | chr2:179455086;179455085;179455084 |
| N2AB | 18815 | 56668;56669;56670 | chr2:178590359;178590358;178590357 | chr2:179455086;179455085;179455084 |
| N2A | 17888 | 53887;53888;53889 | chr2:178590359;178590358;178590357 | chr2:179455086;179455085;179455084 |
| N2B | 11391 | 34396;34397;34398 | chr2:178590359;178590358;178590357 | chr2:179455086;179455085;179455084 |
| Novex-1 | 11516 | 34771;34772;34773 | chr2:178590359;178590358;178590357 | chr2:179455086;179455085;179455084 |
| Novex-2 | 11583 | 34972;34973;34974 | chr2:178590359;178590358;178590357 | chr2:179455086;179455085;179455084 |
| 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 | rs756873840  |
-1.225 | 1.0 | N | 0.811 | 0.445 | 0.233150807113 | gnomAD-2.1.1 | 1.83E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.95E-05 | 1.89394E-04 |
| G/S | rs756873840 |
-1.225 | 1.0 | N | 0.811 | 0.445 | 0.233150807113 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs756873840 |
-1.225 | 1.0 | N | 0.811 | 0.445 | 0.233150807113 | gnomAD-4.0.0 | 2.15646E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9252E-05 | 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 | 0.701 | likely_pathogenic | 0.7191 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.524094479 | None | None | I |
| G/C | 0.9479 | likely_pathogenic | 0.9492 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.524601458 | None | None | I |
| G/D | 0.9791 | likely_pathogenic | 0.9773 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.512231195 | None | None | I |
| G/E | 0.9881 | likely_pathogenic | 0.9864 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | I |
| G/F | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/H | 0.996 | likely_pathogenic | 0.9955 | pathogenic | -1.455 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/I | 0.9944 | likely_pathogenic | 0.994 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/K | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/L | 0.994 | likely_pathogenic | 0.9945 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/M | 0.9919 | likely_pathogenic | 0.9927 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/N | 0.9812 | likely_pathogenic | 0.979 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/Q | 0.9932 | likely_pathogenic | 0.9928 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/R | 0.9949 | likely_pathogenic | 0.9944 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.915 | deleterious | N | 0.506154808 | None | None | I |
| G/S | 0.3846 | ambiguous | 0.3756 | ambiguous | -1.279 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.432176821 | None | None | I |
| G/T | 0.894 | likely_pathogenic | 0.8845 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/V | 0.9843 | likely_pathogenic | 0.9834 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.524854948 | None | None | I |
| G/W | 0.9945 | likely_pathogenic | 0.9943 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/Y | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.869 | 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.