Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31021 | 93286;93287;93288 | chr2:178548565;178548564;178548563 | chr2:179413292;179413291;179413290 |
| N2AB | 29380 | 88363;88364;88365 | chr2:178548565;178548564;178548563 | chr2:179413292;179413291;179413290 |
| N2A | 28453 | 85582;85583;85584 | chr2:178548565;178548564;178548563 | chr2:179413292;179413291;179413290 |
| N2B | 21956 | 66091;66092;66093 | chr2:178548565;178548564;178548563 | chr2:179413292;179413291;179413290 |
| Novex-1 | 22081 | 66466;66467;66468 | chr2:178548565;178548564;178548563 | chr2:179413292;179413291;179413290 |
| Novex-2 | 22148 | 66667;66668;66669 | chr2:178548565;178548564;178548563 | chr2:179413292;179413291;179413290 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 1.0 | N | 0.793 | 0.456 | 0.604839314244 | gnomAD-4.0.0 | 3.18222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54539E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1283096478  |
-1.699 | 1.0 | N | 0.838 | 0.346 | 0.338110398507 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1283096478 |
-1.699 | 1.0 | N | 0.838 | 0.346 | 0.338110398507 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77285E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.168 | likely_benign | 0.1717 | benign | -0.631 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.485734452 | None | None | N |
| G/C | 0.2976 | likely_benign | 0.2928 | benign | -0.669 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.477751567 | None | None | N |
| G/D | 0.7585 | likely_pathogenic | 0.7499 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.512651695 | None | None | N |
| G/E | 0.5647 | likely_pathogenic | 0.5504 | ambiguous | -1.8 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/F | 0.758 | likely_pathogenic | 0.7428 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/H | 0.7548 | likely_pathogenic | 0.7551 | pathogenic | -1.83 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/I | 0.4604 | ambiguous | 0.4616 | ambiguous | 0.215 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/K | 0.7323 | likely_pathogenic | 0.7264 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/L | 0.481 | ambiguous | 0.4996 | ambiguous | 0.215 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/M | 0.5659 | likely_pathogenic | 0.5919 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/N | 0.6316 | likely_pathogenic | 0.6472 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/P | 0.9515 | likely_pathogenic | 0.9354 | pathogenic | -0.023 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/Q | 0.5691 | likely_pathogenic | 0.5857 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/R | 0.6219 | likely_pathogenic | 0.6145 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.479056409 | None | None | N |
| G/S | 0.165 | likely_benign | 0.1812 | benign | -1.491 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.485251663 | None | None | N |
| G/T | 0.3109 | likely_benign | 0.3192 | benign | -1.304 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/V | 0.3313 | likely_benign | 0.3345 | benign | -0.023 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.441444957 | None | None | N |
| G/W | 0.7301 | likely_pathogenic | 0.7092 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/Y | 0.6892 | likely_pathogenic | 0.6788 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.813 | 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.