Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17574 | 52945;52946;52947 | chr2:178608067;178608066;178608065 | chr2:179472794;179472793;179472792 |
| N2AB | 15933 | 48022;48023;48024 | chr2:178608067;178608066;178608065 | chr2:179472794;179472793;179472792 |
| N2A | 15006 | 45241;45242;45243 | chr2:178608067;178608066;178608065 | chr2:179472794;179472793;179472792 |
| N2B | 8509 | 25750;25751;25752 | chr2:178608067;178608066;178608065 | chr2:179472794;179472793;179472792 |
| Novex-1 | 8634 | 26125;26126;26127 | chr2:178608067;178608066;178608065 | chr2:179472794;179472793;179472792 |
| Novex-2 | 8701 | 26326;26327;26328 | chr2:178608067;178608066;178608065 | chr2:179472794;179472793;179472792 |
| 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 | rs759901950  |
-2.137 | 1.0 | N | 0.825 | 0.351 | 0.438593652726 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| P/S | rs759901950 |
-2.878 | 1.0 | N | 0.835 | 0.372 | 0.444202592202 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| P/S | rs759901950 |
-2.878 | 1.0 | N | 0.835 | 0.372 | 0.444202592202 | gnomAD-4.0.0 | 3.18914E-06 | None | None | None | None | N | None | 5.67344E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86308E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7242 | likely_pathogenic | 0.7598 | pathogenic | -2.296 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.484987405 | None | None | N |
| P/C | 0.9557 | likely_pathogenic | 0.9638 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/D | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -3.315 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/E | 0.9935 | likely_pathogenic | 0.9949 | pathogenic | -3.083 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/F | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/G | 0.9744 | likely_pathogenic | 0.9798 | pathogenic | -2.81 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/H | 0.9915 | likely_pathogenic | 0.992 | pathogenic | -2.583 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.529451575 | None | None | N |
| P/I | 0.9359 | likely_pathogenic | 0.9577 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/K | 0.9957 | likely_pathogenic | 0.9967 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/L | 0.91 | likely_pathogenic | 0.9245 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.527423658 | None | None | N |
| P/M | 0.9796 | likely_pathogenic | 0.984 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/N | 0.9954 | likely_pathogenic | 0.9965 | pathogenic | -2.374 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/Q | 0.9864 | likely_pathogenic | 0.9885 | pathogenic | -2.185 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/R | 0.9852 | likely_pathogenic | 0.9874 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.529198085 | None | None | N |
| P/S | 0.9496 | likely_pathogenic | 0.9592 | pathogenic | -2.881 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.486811057 | None | None | N |
| P/T | 0.9059 | likely_pathogenic | 0.9387 | pathogenic | -2.523 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.494711095 | None | None | N |
| P/V | 0.8221 | likely_pathogenic | 0.8761 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/W | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/Y | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.857 | 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.