Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13978 | 42157;42158;42159 | chr2:178635257;178635256;178635255 | chr2:179499984;179499983;179499982 |
| N2AB | 12337 | 37234;37235;37236 | chr2:178635257;178635256;178635255 | chr2:179499984;179499983;179499982 |
| N2A | 11410 | 34453;34454;34455 | chr2:178635257;178635256;178635255 | chr2:179499984;179499983;179499982 |
| N2B | 4913 | 14962;14963;14964 | chr2:178635257;178635256;178635255 | chr2:179499984;179499983;179499982 |
| Novex-1 | 5038 | 15337;15338;15339 | chr2:178635257;178635256;178635255 | chr2:179499984;179499983;179499982 |
| Novex-2 | 5105 | 15538;15539;15540 | chr2:178635257;178635256;178635255 | chr2:179499984;179499983;179499982 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs1275851499  |
None | 0.999 | D | 0.601 | 0.545 | 0.30921473904 | 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 |
| E/G | rs1275851499 |
None | 0.999 | D | 0.601 | 0.545 | 0.30921473904 | gnomAD-4.0.0 | 1.3148E-05 | None | None | None | None | N | None | 4.82509E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs746667196 |
-0.562 | 0.997 | N | 0.693 | 0.368 | 0.253205268125 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| E/K | rs746667196 |
-0.562 | 0.997 | N | 0.693 | 0.368 | 0.253205268125 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| E/K | rs746667196 |
-0.562 | 0.997 | N | 0.693 | 0.368 | 0.253205268125 | gnomAD-4.0.0 | 5.20708E-05 | None | None | None | None | N | None | 1.33547E-05 | 1.66756E-05 | None | 0 | 0 | None | 0 | 0 | 6.86713E-05 | 0 | 1.60185E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8693 | likely_pathogenic | 0.9231 | pathogenic | -0.795 | Destabilizing | 0.997 | D | 0.677 | prob.neutral | N | 0.48511433 | None | None | N |
| E/C | 0.9975 | likely_pathogenic | 0.9983 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.724 | deleterious | None | None | None | None | N |
| E/D | 0.9446 | likely_pathogenic | 0.9693 | pathogenic | -1.169 | Destabilizing | 0.997 | D | 0.567 | neutral | D | 0.554526105 | None | None | N |
| E/F | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| E/G | 0.899 | likely_pathogenic | 0.9254 | pathogenic | -1.182 | Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.554706492 | None | None | N |
| E/H | 0.9951 | likely_pathogenic | 0.9966 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.657 | prob.neutral | None | None | None | None | N |
| E/I | 0.9879 | likely_pathogenic | 0.9914 | pathogenic | 0.269 | Stabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| E/K | 0.9404 | likely_pathogenic | 0.957 | pathogenic | -0.753 | Destabilizing | 0.997 | D | 0.693 | prob.delet. | N | 0.489234591 | None | None | N |
| E/L | 0.986 | likely_pathogenic | 0.9906 | pathogenic | 0.269 | Stabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| E/M | 0.9905 | likely_pathogenic | 0.9941 | pathogenic | 0.666 | Stabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| E/N | 0.9884 | likely_pathogenic | 0.9928 | pathogenic | -1.244 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| E/P | 0.9783 | likely_pathogenic | 0.9889 | pathogenic | -0.064 | Destabilizing | 0.999 | D | 0.587 | neutral | None | None | None | None | N |
| E/Q | 0.7985 | likely_pathogenic | 0.8351 | pathogenic | -1.081 | Destabilizing | 0.999 | D | 0.645 | neutral | D | 0.552768607 | None | None | N |
| E/R | 0.963 | likely_pathogenic | 0.9669 | pathogenic | -0.447 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| E/S | 0.9511 | likely_pathogenic | 0.969 | pathogenic | -1.57 | Destabilizing | 0.998 | D | 0.7 | prob.delet. | None | None | None | None | N |
| E/T | 0.9728 | likely_pathogenic | 0.9858 | pathogenic | -1.25 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| E/V | 0.9643 | likely_pathogenic | 0.9737 | pathogenic | -0.064 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.456796467 | None | None | N |
| E/W | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.723 | deleterious | None | None | None | None | N |
| E/Y | 0.9972 | likely_pathogenic | 0.998 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.702 | prob.delet. | 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.