Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23971 | 72136;72137;72138 | chr2:178574221;178574220;178574219 | chr2:179438948;179438947;179438946 |
| N2AB | 22330 | 67213;67214;67215 | chr2:178574221;178574220;178574219 | chr2:179438948;179438947;179438946 |
| N2A | 21403 | 64432;64433;64434 | chr2:178574221;178574220;178574219 | chr2:179438948;179438947;179438946 |
| N2B | 14906 | 44941;44942;44943 | chr2:178574221;178574220;178574219 | chr2:179438948;179438947;179438946 |
| Novex-1 | 15031 | 45316;45317;45318 | chr2:178574221;178574220;178574219 | chr2:179438948;179438947;179438946 |
| Novex-2 | 15098 | 45517;45518;45519 | chr2:178574221;178574220;178574219 | chr2:179438948;179438947;179438946 |
| 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 | rs746880378  |
-1.222 | 1.0 | D | 0.689 | 0.632 | 0.545217795575 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 1.29232E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs746880378 |
-1.222 | 1.0 | D | 0.689 | 0.632 | 0.545217795575 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs746880378 |
-1.222 | 1.0 | D | 0.689 | 0.632 | 0.545217795575 | gnomAD-4.0.0 | 3.84543E-06 | None | None | None | None | N | None | 5.07494E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/L | None | None | 1.0 | N | 0.66 | 0.569 | 0.612809178259 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| W/R | rs373717147 |
-1.304 | 1.0 | N | 0.758 | 0.637 | 0.558927764886 | gnomAD-2.1.1 | 5.73E-05 | None | None | None | None | N | None | 4.54733E-04 | 1.1327E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40687E-04 |
| W/R | rs373717147 |
-1.304 | 1.0 | N | 0.758 | 0.637 | 0.558927764886 | gnomAD-3.1.2 | 1.11763E-04 | None | None | None | None | N | None | 3.61847E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/R | rs373717147 |
-1.304 | 1.0 | N | 0.758 | 0.637 | 0.558927764886 | gnomAD-4.0.0 | 2.04553E-05 | None | None | None | None | N | None | 3.20384E-04 | 1.00043E-04 | None | 0 | 0 | None | 0 | 0 | 8.47777E-07 | 0 | 3.20297E-05 |
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 | 0.9949 | likely_pathogenic | 0.9957 | pathogenic | -2.939 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/C | 0.9966 | likely_pathogenic | 0.9973 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.528899737 | None | None | N |
| W/D | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/E | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/F | 0.6339 | likely_pathogenic | 0.6502 | pathogenic | -1.803 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| W/G | 0.9793 | likely_pathogenic | 0.9813 | pathogenic | -3.133 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | D | 0.528139268 | None | None | N |
| W/H | 0.9914 | likely_pathogenic | 0.992 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/I | 0.9888 | likely_pathogenic | 0.9903 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| W/K | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| W/L | 0.9697 | likely_pathogenic | 0.9723 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.510489086 | None | None | N |
| W/M | 0.9925 | likely_pathogenic | 0.9929 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| W/N | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/P | 0.9955 | likely_pathogenic | 0.9959 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| W/Q | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/R | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.516275984 | None | None | N |
| W/S | 0.9899 | likely_pathogenic | 0.9915 | pathogenic | -2.377 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.516022494 | None | None | N |
| W/T | 0.9951 | likely_pathogenic | 0.9957 | pathogenic | -2.263 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/V | 0.9894 | likely_pathogenic | 0.9906 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/Y | 0.8576 | likely_pathogenic | 0.8581 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.583 | neutral | 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.