Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35859 | 107800;107801;107802 | chr2:178527551;178527550;178527549 | chr2:179392278;179392277;179392276 |
| N2AB | 34218 | 102877;102878;102879 | chr2:178527551;178527550;178527549 | chr2:179392278;179392277;179392276 |
| N2A | 33291 | 100096;100097;100098 | chr2:178527551;178527550;178527549 | chr2:179392278;179392277;179392276 |
| N2B | 26794 | 80605;80606;80607 | chr2:178527551;178527550;178527549 | chr2:179392278;179392277;179392276 |
| Novex-1 | 26919 | 80980;80981;80982 | chr2:178527551;178527550;178527549 | chr2:179392278;179392277;179392276 |
| Novex-2 | 26986 | 81181;81182;81183 | chr2:178527551;178527550;178527549 | chr2:179392278;179392277;179392276 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs772602914  |
None | None | N | None | 0.133 | None | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 | |
| M/I | rs772602914 |
None | None | N | None | 0.133 | None | gnomAD-4.0.0 | 1.59092E-06 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 | |
| M/T | rs72629793 |
None | None | N | None | 0.398 | None | gnomAD-2.1.1 | 1.76825E-03 | None | None | None | None | None | 8.26E-05 | 2.54453E-04 | None | 8.01777E-03 | 5.12E-05 | None | 8.82295E-03 | None | 0 | 8.80762E-04 | 2.52242E-03 | |
| M/T | rs72629793 |
None | None | N | None | 0.398 | None | gnomAD-3.1.2 | 9.85286E-04 | None | None | None | None | None | 7.23E-05 | 0 | 0 | 8.93372E-03 | 3.8432E-04 | None | 0 | 0 | 8.37693E-04 | 1.11801E-02 | 1.43678E-03 | |
| M/T | rs72629793 |
None | None | N | None | 0.398 | None | 1000 genomes | 2.19649E-03 | None | None | None | None | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 1.02E-02 | None | |
| M/T | rs72629793 |
None | None | N | None | 0.398 | None |
Taylor (2011)
| None |
ARVC 
|
comp het | None | None | Genetic analysis of TTN in 38 ARVC families, incomplete penetrance | None | None | None | None | None | None | None | None | None | None | None | |
| M/T | rs72629793 |
None | None | N | None | 0.398 | None | gnomAD-4.0.0 | 1.27692E-03 | None | None | None | None | None | 1.19888E-04 | 1.83236E-04 | None | 9.01844E-03 | 2.00481E-04 | None | 4.68647E-05 | 6.1036E-03 | 5.76327E-04 | 1.00132E-02 | 2.12861E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.7152 | likely_pathogenic | 0.6249 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/C | 0.9341 | likely_pathogenic | 0.9105 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/D | 0.9511 | likely_pathogenic | 0.9444 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/E | 0.7988 | likely_pathogenic | 0.7746 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/F | 0.5751 | likely_pathogenic | 0.4525 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| M/G | 0.8704 | likely_pathogenic | 0.8251 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/H | 0.8239 | likely_pathogenic | 0.7689 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/I | 0.6244 | likely_pathogenic | 0.4904 | ambiguous | None | None | None | None | None | None | N | 0.455785265 | None | None | |
| M/K | 0.4553 | ambiguous | 0.3717 | ambiguous | None | None | None | None | None | None | N | 0.45838564 | None | None | |
| M/L | 0.2611 | likely_benign | 0.2123 | benign | None | None | None | None | None | None | N | 0.456478699 | None | None | |
| M/N | 0.8562 | likely_pathogenic | 0.8109 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/P | 0.8869 | likely_pathogenic | 0.8681 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/Q | 0.4716 | ambiguous | 0.4172 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| M/R | 0.4809 | ambiguous | 0.3743 | ambiguous | None | None | None | None | None | None | N | 0.458558999 | None | None | |
| M/S | 0.713 | likely_pathogenic | 0.6362 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/T | 0.5175 | ambiguous | 0.4358 | ambiguous | None | None | None | None | None | None | N | 0.457865565 | None | None | |
| M/V | 0.119 | likely_benign | 0.0909 | benign | None | None | None | None | None | None | N | 0.436852788 | None | None | |
| M/W | 0.8754 | likely_pathogenic | 0.8354 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
| M/Y | 0.8501 | likely_pathogenic | 0.8022 | pathogenic | None | None | None | None | None | None | None | None | None | None |
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.