Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33171 | 99736;99737;99738 | chr2:178537696;178537695;178537694 | chr2:179402423;179402422;179402421 |
| N2AB | 31530 | 94813;94814;94815 | chr2:178537696;178537695;178537694 | chr2:179402423;179402422;179402421 |
| N2A | 30603 | 92032;92033;92034 | chr2:178537696;178537695;178537694 | chr2:179402423;179402422;179402421 |
| N2B | 24106 | 72541;72542;72543 | chr2:178537696;178537695;178537694 | chr2:179402423;179402422;179402421 |
| Novex-1 | 24231 | 72916;72917;72918 | chr2:178537696;178537695;178537694 | chr2:179402423;179402422;179402421 |
| Novex-2 | 24298 | 73117;73118;73119 | chr2:178537696;178537695;178537694 | chr2:179402423;179402422;179402421 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs532644861  |
-2.248 | 1.0 | D | 0.811 | 0.838 | 0.767459680962 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs532644861 |
-2.248 | 1.0 | D | 0.811 | 0.838 | 0.767459680962 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs532644861 |
-2.248 | 1.0 | D | 0.811 | 0.838 | 0.767459680962 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| Y/H | rs532644861 |
-2.248 | 1.0 | D | 0.811 | 0.838 | 0.767459680962 | gnomAD-4.0.0 | 6.56607E-06 | None | None | None | None | N | None | 2.40523E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9968 | likely_pathogenic | 0.998 | pathogenic | -2.378 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/C | 0.9255 | likely_pathogenic | 0.9555 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.657370195 | None | None | N |
| Y/D | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -2.73 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.657370195 | None | None | N |
| Y/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.474 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| Y/F | 0.1771 | likely_benign | 0.1767 | benign | -0.808 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.552301407 | None | None | N |
| Y/G | 0.9955 | likely_pathogenic | 0.9971 | pathogenic | -2.84 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| Y/H | 0.9827 | likely_pathogenic | 0.9849 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.640916865 | None | None | N |
| Y/I | 0.9095 | likely_pathogenic | 0.9247 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/K | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/L | 0.8368 | likely_pathogenic | 0.8819 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| Y/M | 0.9728 | likely_pathogenic | 0.9787 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/N | 0.9918 | likely_pathogenic | 0.994 | pathogenic | -2.837 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.657370195 | None | None | N |
| Y/P | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| Y/Q | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.367 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/R | 0.997 | likely_pathogenic | 0.9973 | pathogenic | -2.199 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/S | 0.9925 | likely_pathogenic | 0.9952 | pathogenic | -3.209 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.657370195 | None | None | N |
| Y/T | 0.9959 | likely_pathogenic | 0.9972 | pathogenic | -2.803 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| Y/V | 0.8887 | likely_pathogenic | 0.9112 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/W | 0.8503 | likely_pathogenic | 0.862 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.799 | 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.