Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30346 | 91261;91262;91263 | chr2:178551864;178551863;178551862 | chr2:179416591;179416590;179416589 |
| N2AB | 28705 | 86338;86339;86340 | chr2:178551864;178551863;178551862 | chr2:179416591;179416590;179416589 |
| N2A | 27778 | 83557;83558;83559 | chr2:178551864;178551863;178551862 | chr2:179416591;179416590;179416589 |
| N2B | 21281 | 64066;64067;64068 | chr2:178551864;178551863;178551862 | chr2:179416591;179416590;179416589 |
| Novex-1 | 21406 | 64441;64442;64443 | chr2:178551864;178551863;178551862 | chr2:179416591;179416590;179416589 |
| Novex-2 | 21473 | 64642;64643;64644 | chr2:178551864;178551863;178551862 | chr2:179416591;179416590;179416589 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs917850028  |
-0.486 | 0.767 | N | 0.202 | 0.132 | 0.208816687407 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/E | rs917850028 |
-0.486 | 0.767 | N | 0.202 | 0.132 | 0.208816687407 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/E | rs917850028 |
-0.486 | 0.767 | N | 0.202 | 0.132 | 0.208816687407 | gnomAD-4.0.0 | 3.09829E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23788E-06 | 0 | 0 |
| D/Y | rs572533691 |
0.21 | 1.0 | N | 0.843 | 0.416 | 0.599259136914 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| D/Y | rs572533691 |
0.21 | 1.0 | N | 0.843 | 0.416 | 0.599259136914 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| D/Y | rs572533691 |
0.21 | 1.0 | N | 0.843 | 0.416 | 0.599259136914 | gnomAD-4.0.0 | 6.5672E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2408 | likely_benign | 0.228 | benign | -0.311 | Destabilizing | 0.996 | D | 0.744 | deleterious | N | 0.462204231 | None | None | I |
| D/C | 0.7387 | likely_pathogenic | 0.7161 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| D/E | 0.1362 | likely_benign | 0.1244 | benign | -0.534 | Destabilizing | 0.767 | D | 0.202 | neutral | N | 0.392437502 | None | None | I |
| D/F | 0.7032 | likely_pathogenic | 0.6986 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| D/G | 0.2584 | likely_benign | 0.2485 | benign | -0.589 | Destabilizing | 0.998 | D | 0.754 | deleterious | N | 0.484003656 | None | None | I |
| D/H | 0.3984 | ambiguous | 0.3886 | ambiguous | -0.217 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.504474928 | None | None | I |
| D/I | 0.4868 | ambiguous | 0.4875 | ambiguous | 0.392 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| D/K | 0.5282 | ambiguous | 0.4907 | ambiguous | 0.053 | Stabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | I |
| D/L | 0.4792 | ambiguous | 0.4529 | ambiguous | 0.392 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| D/M | 0.6465 | likely_pathogenic | 0.6241 | pathogenic | 0.612 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| D/N | 0.1303 | likely_benign | 0.1294 | benign | -0.322 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.442290319 | None | None | I |
| D/P | 0.8114 | likely_pathogenic | 0.7535 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| D/Q | 0.412 | ambiguous | 0.3856 | ambiguous | -0.243 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | I |
| D/R | 0.5968 | likely_pathogenic | 0.5674 | pathogenic | 0.218 | Stabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | I |
| D/S | 0.1891 | likely_benign | 0.1808 | benign | -0.465 | Destabilizing | 0.997 | D | 0.635 | neutral | None | None | None | None | I |
| D/T | 0.3274 | likely_benign | 0.3148 | benign | -0.247 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| D/V | 0.2914 | likely_benign | 0.2856 | benign | 0.182 | Stabilizing | 0.999 | D | 0.852 | deleterious | N | 0.456355695 | None | None | I |
| D/W | 0.9238 | likely_pathogenic | 0.9173 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| D/Y | 0.3282 | likely_benign | 0.3266 | benign | 0.145 | Stabilizing | 1.0 | D | 0.843 | deleterious | N | 0.497914316 | None | None | I |
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.