Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17863 | 53812;53813;53814 | chr2:178605708;178605707;178605706 | chr2:179470435;179470434;179470433 |
| N2AB | 16222 | 48889;48890;48891 | chr2:178605708;178605707;178605706 | chr2:179470435;179470434;179470433 |
| N2A | 15295 | 46108;46109;46110 | chr2:178605708;178605707;178605706 | chr2:179470435;179470434;179470433 |
| N2B | 8798 | 26617;26618;26619 | chr2:178605708;178605707;178605706 | chr2:179470435;179470434;179470433 |
| Novex-1 | 8923 | 26992;26993;26994 | chr2:178605708;178605707;178605706 | chr2:179470435;179470434;179470433 |
| Novex-2 | 8990 | 27193;27194;27195 | chr2:178605708;178605707;178605706 | chr2:179470435;179470434;179470433 |
| 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/S | rs779017618  |
-2.297 | 1.0 | D | 0.77 | 0.552 | 0.498705051145 | gnomAD-2.1.1 | 1.28E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| P/S | rs779017618 |
-2.297 | 1.0 | D | 0.77 | 0.552 | 0.498705051145 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/S | rs779017618 |
-2.297 | 1.0 | D | 0.77 | 0.552 | 0.498705051145 | gnomAD-4.0.0 | 4.33387E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.07942E-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 | 0.8878 | likely_pathogenic | 0.7969 | pathogenic | -1.335 | Destabilizing | 0.999 | D | 0.805 | deleterious | D | 0.525652913 | None | None | N |
| P/C | 0.9851 | likely_pathogenic | 0.9688 | pathogenic | -2.333 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -3.397 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/E | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -3.321 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/G | 0.9942 | likely_pathogenic | 0.9885 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/H | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| P/I | 0.99 | likely_pathogenic | 0.9858 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.722 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/L | 0.976 | likely_pathogenic | 0.9661 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.536666823 | None | None | N |
| P/M | 0.9957 | likely_pathogenic | 0.9933 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/Q | 0.9972 | likely_pathogenic | 0.996 | pathogenic | -2.137 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.549544066 | None | None | N |
| P/R | 0.996 | likely_pathogenic | 0.9947 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.549037087 | None | None | N |
| P/S | 0.9896 | likely_pathogenic | 0.9803 | pathogenic | -2.269 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.548276618 | None | None | N |
| P/T | 0.9841 | likely_pathogenic | 0.9729 | pathogenic | -2.092 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.514803586 | None | None | N |
| P/V | 0.9604 | likely_pathogenic | 0.9404 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.801 | 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.