Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21387 | 64384;64385;64386 | chr2:178586742;178586741;178586740 | chr2:179451469;179451468;179451467 |
| N2AB | 19746 | 59461;59462;59463 | chr2:178586742;178586741;178586740 | chr2:179451469;179451468;179451467 |
| N2A | 18819 | 56680;56681;56682 | chr2:178586742;178586741;178586740 | chr2:179451469;179451468;179451467 |
| N2B | 12322 | 37189;37190;37191 | chr2:178586742;178586741;178586740 | chr2:179451469;179451468;179451467 |
| Novex-1 | 12447 | 37564;37565;37566 | chr2:178586742;178586741;178586740 | chr2:179451469;179451468;179451467 |
| Novex-2 | 12514 | 37765;37766;37767 | chr2:178586742;178586741;178586740 | chr2:179451469;179451468;179451467 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.808 | 0.76 | 0.893464030288 | gnomAD-4.0.0 | 1.59276E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9971 | likely_pathogenic | 0.9958 | pathogenic | -3.222 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/C | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.666024547 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.702 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.579 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/F | 0.6916 | likely_pathogenic | 0.5728 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/G | 0.9862 | likely_pathogenic | 0.9853 | pathogenic | -3.467 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.666024547 | None | None | N |
| W/H | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -2.575 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/I | 0.9921 | likely_pathogenic | 0.9844 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.672 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/L | 0.9796 | likely_pathogenic | 0.9662 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.665015526 | None | None | N |
| W/M | 0.9968 | likely_pathogenic | 0.9943 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.412 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.623 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.221 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.463 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.666024547 | None | None | N |
| W/S | 0.9962 | likely_pathogenic | 0.9955 | pathogenic | -3.504 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.666024547 | None | None | N |
| W/T | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -3.302 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/V | 0.9925 | likely_pathogenic | 0.9861 | pathogenic | -2.623 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/Y | 0.9323 | likely_pathogenic | 0.9056 | pathogenic | -1.861 | Destabilizing | 1.0 | D | 0.834 | 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.