Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19898 | 59917;59918;59919 | chr2:178592212;178592211;178592210 | chr2:179456939;179456938;179456937 |
| N2AB | 18257 | 54994;54995;54996 | chr2:178592212;178592211;178592210 | chr2:179456939;179456938;179456937 |
| N2A | 17330 | 52213;52214;52215 | chr2:178592212;178592211;178592210 | chr2:179456939;179456938;179456937 |
| N2B | 10833 | 32722;32723;32724 | chr2:178592212;178592211;178592210 | chr2:179456939;179456938;179456937 |
| Novex-1 | 10958 | 33097;33098;33099 | chr2:178592212;178592211;178592210 | chr2:179456939;179456938;179456937 |
| Novex-2 | 11025 | 33298;33299;33300 | chr2:178592212;178592211;178592210 | chr2:179456939;179456938;179456937 |
| 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 | rs750948166  |
-1.798 | 1.0 | D | 0.851 | 0.765 | 0.854387073164 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| W/C | rs750948166 |
-1.798 | 1.0 | D | 0.851 | 0.765 | 0.854387073164 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.15973E-04 | 0 |
| W/C | rs750948166 |
-1.798 | 1.0 | D | 0.851 | 0.765 | 0.854387073164 | gnomAD-4.0.0 | 6.42084E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39756E-06 | 5.37577E-05 | 0 |
| W/R | rs1415408093 |
-2.26 | 1.0 | D | 0.911 | 0.905 | 0.903899350074 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs1415408093 |
-2.26 | 1.0 | D | 0.911 | 0.905 | 0.903899350074 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1415408093 |
-2.26 | 1.0 | D | 0.911 | 0.905 | 0.903899350074 | gnomAD-4.0.0 | 6.57557E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -3.434 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.656891558 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -3.699 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.583 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/F | 0.8085 | likely_pathogenic | 0.825 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/G | 0.9912 | likely_pathogenic | 0.9915 | pathogenic | -3.674 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.656891558 | None | None | N |
| W/H | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -2.627 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/I | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.673 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/L | 0.9911 | likely_pathogenic | 0.9894 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.639661371 | None | None | N |
| W/M | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.361 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| W/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.841 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.216 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.656891558 | None | None | N |
| W/S | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -3.516 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.656891558 | None | None | N |
| W/T | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.325 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/V | 0.9959 | likely_pathogenic | 0.995 | pathogenic | -2.841 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/Y | 0.9616 | likely_pathogenic | 0.9631 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.854 | 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.