Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 743 | 2452;2453;2454 | chr2:178785991;178785990;178785989 | chr2:179650718;179650717;179650716 |
| N2AB | 743 | 2452;2453;2454 | chr2:178785991;178785990;178785989 | chr2:179650718;179650717;179650716 |
| N2A | 743 | 2452;2453;2454 | chr2:178785991;178785990;178785989 | chr2:179650718;179650717;179650716 |
| N2B | 697 | 2314;2315;2316 | chr2:178785991;178785990;178785989 | chr2:179650718;179650717;179650716 |
| Novex-1 | 697 | 2314;2315;2316 | chr2:178785991;178785990;178785989 | chr2:179650718;179650717;179650716 |
| Novex-2 | 697 | 2314;2315;2316 | chr2:178785991;178785990;178785989 | chr2:179650718;179650717;179650716 |
| Novex-3 | 743 | 2452;2453;2454 | chr2:178785991;178785990;178785989 | chr2:179650718;179650717;179650716 |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCC
- RefSeq wild type template codon: CGG
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs370728359  |
None | None | N | None | 0.2 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 | |
| A/P | rs370728359 |
None | None | N | None | 0.2 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 | |
| A/P | rs370728359 |
None | None | N | None | 0.2 | None | gnomAD-4.0.0 | 2.47848E-06 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38985E-06 | 0 | 0 | |
| A/S | None | None | None | N | None | 0.052 | None | gnomAD-4.0.0 | 6.84076E-07 | None | None | None | None | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99297E-07 | 0 | 0 | |
| A/T | rs370728359 |
None | None | N | None | 0.071 | None | gnomAD-2.1.1 | 1.06E-05 | None | None | None | None | None | 0 | 2.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.55E-05 | 0 | |
| A/T | rs370728359 |
None | None | N | None | 0.071 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 | |
| A/T | rs370728359 |
None | None | N | None | 0.071 | None | gnomAD-4.0.0 | 1.92082E-05 | None | None | None | None | None | 0 | 1.66744E-05 | None | 0 | 4.45653E-05 | None | 0 | 0 | 2.11865E-05 | 1.09801E-05 | 3.20082E-05 | |
| A/V | rs267607157 |
None | None | N | None | 0.273 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | None | 0 | 0 | 0 | 0 | 3.84911E-04 | None | 0 | 0 | 0 | 0 | 0 | |
| A/V | rs267607157 |
None | None | N | None | 0.273 | None |
Itoh-Satoh (2002)
| None |
DCM 
|
het | None | None | Genetic analysis of JP DCM families, unknown penetrance; decreases binding of TTN to ACTN1 (Y2H assay) | None | None | None | None | None | None | None | None | None | None | None | |
| A/V | rs267607157 |
None | None | N | None | 0.273 | None | gnomAD-4.0.0 | 1.5368E-05 | None | None | None | None | None | 0 | 0 | None | 0 | 2.90909E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.515 | ambiguous | 0.4234 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| A/D | 0.1783 | likely_benign | 0.1536 | benign | None | None | None | None | None | None | N | 0.49177538 | None | None | |
| A/E | 0.1491 | likely_benign | 0.1311 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/F | 0.26 | likely_benign | 0.223 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/G | 0.1253 | likely_benign | 0.111 | benign | None | None | None | None | None | None | N | 0.490136297 | None | None | |
| A/H | 0.3309 | likely_benign | 0.2697 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/I | 0.1946 | likely_benign | 0.1631 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/K | 0.2417 | likely_benign | 0.2089 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/L | 0.1394 | likely_benign | 0.1174 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/M | 0.1892 | likely_benign | 0.1587 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/N | 0.1954 | likely_benign | 0.1667 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/P | 0.1001 | likely_benign | 0.0896 | benign | None | None | None | None | None | None | N | 0.492248918 | None | None | |
| A/Q | 0.2283 | likely_benign | 0.1909 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/R | 0.2017 | likely_benign | 0.176 | benign | None | None | None | None | None | None | None | None | None | None | |
| A/S | 0.0902 | likely_benign | 0.0845 | benign | None | None | None | None | None | None | N | 0.48969392 | None | None | |
| A/T | 0.0695 | likely_benign | 0.0732 | benign | None | None | None | None | None | None | N | 0.46942826 | None | None | |
| A/V | 0.1042 | likely_benign | 0.0943 | benign | None | None | None | None | None | None | N | 0.490265779 | None | None | |
| A/W | 0.598 | likely_pathogenic | 0.5136 | ambiguous | None | None | None | None | None | None | None | None | None | None | |
| A/Y | 0.3755 | ambiguous | 0.3144 | benign | 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.