Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30325 | 91198;91199;91200 | chr2:178551927;178551926;178551925 | chr2:179416654;179416653;179416652 |
| N2AB | 28684 | 86275;86276;86277 | chr2:178551927;178551926;178551925 | chr2:179416654;179416653;179416652 |
| N2A | 27757 | 83494;83495;83496 | chr2:178551927;178551926;178551925 | chr2:179416654;179416653;179416652 |
| N2B | 21260 | 64003;64004;64005 | chr2:178551927;178551926;178551925 | chr2:179416654;179416653;179416652 |
| Novex-1 | 21385 | 64378;64379;64380 | chr2:178551927;178551926;178551925 | chr2:179416654;179416653;179416652 |
| Novex-2 | 21452 | 64579;64580;64581 | chr2:178551927;178551926;178551925 | chr2:179416654;179416653;179416652 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.999 | D | 0.801 | 0.717 | 0.736517613924 | gnomAD-4.0.0 | 3.42126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.5582E-05 | None | 0 | 0 | 0 | 0 | 3.31312E-05 |
| P/S | None | None | 1.0 | D | 0.739 | 0.736 | 0.746115941231 | gnomAD-4.0.0 | 6.84252E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15953E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7541 | likely_pathogenic | 0.8449 | pathogenic | -1.715 | Destabilizing | 0.999 | D | 0.801 | deleterious | D | 0.620055946 | None | None | N |
| P/C | 0.9783 | likely_pathogenic | 0.9859 | pathogenic | -2.221 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -3.377 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/E | 0.9971 | likely_pathogenic | 0.998 | pathogenic | -3.278 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/G | 0.9892 | likely_pathogenic | 0.9927 | pathogenic | -2.055 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/H | 0.9948 | likely_pathogenic | 0.9966 | pathogenic | -1.482 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.658039868 | None | None | N |
| P/I | 0.9783 | likely_pathogenic | 0.9888 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| P/K | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/L | 0.9331 | likely_pathogenic | 0.9564 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.657838063 | None | None | N |
| P/M | 0.9919 | likely_pathogenic | 0.9956 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| P/N | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Q | 0.992 | likely_pathogenic | 0.9952 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/R | 0.9888 | likely_pathogenic | 0.9916 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.641586538 | None | None | N |
| P/S | 0.9674 | likely_pathogenic | 0.9811 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.739 | deleterious | D | 0.641384734 | None | None | N |
| P/T | 0.9506 | likely_pathogenic | 0.9743 | pathogenic | -2.139 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.641586538 | None | None | N |
| P/V | 0.9449 | likely_pathogenic | 0.97 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.848 | 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.