Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15658 | 47197;47198;47199 | chr2:178618486;178618485;178618484 | chr2:179483213;179483212;179483211 |
| N2AB | 14017 | 42274;42275;42276 | chr2:178618486;178618485;178618484 | chr2:179483213;179483212;179483211 |
| N2A | 13090 | 39493;39494;39495 | chr2:178618486;178618485;178618484 | chr2:179483213;179483212;179483211 |
| N2B | 6593 | 20002;20003;20004 | chr2:178618486;178618485;178618484 | chr2:179483213;179483212;179483211 |
| Novex-1 | 6718 | 20377;20378;20379 | chr2:178618486;178618485;178618484 | chr2:179483213;179483212;179483211 |
| Novex-2 | 6785 | 20578;20579;20580 | chr2:178618486;178618485;178618484 | chr2:179483213;179483212;179483211 |
| 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/L | rs794729440  |
None | 1.0 | D | 0.799 | 0.77 | 0.765417107005 | gnomAD-4.0.0 | 1.5971E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86518E-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 | 0.9023 | likely_pathogenic | 0.908 | pathogenic | -1.422 | Destabilizing | 0.999 | D | 0.791 | deleterious | D | 0.719474093 | None | None | N |
| P/C | 0.9952 | likely_pathogenic | 0.9944 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/E | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -2.987 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/G | 0.994 | likely_pathogenic | 0.9926 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/H | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.786976731 | None | None | N |
| P/I | 0.9966 | likely_pathogenic | 0.9959 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/K | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/L | 0.986 | likely_pathogenic | 0.9854 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.787519374 | None | None | N |
| P/M | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/Q | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/R | 0.9964 | likely_pathogenic | 0.9951 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.787519374 | None | None | N |
| P/S | 0.9913 | likely_pathogenic | 0.9901 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.733599032 | None | None | N |
| P/T | 0.9898 | likely_pathogenic | 0.9872 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.787519374 | None | None | N |
| P/V | 0.9863 | likely_pathogenic | 0.9842 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.837 | 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.