Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28671 | 86236;86237;86238 | chr2:178560121;178560120;178560119 | chr2:179424848;179424847;179424846 |
| N2AB | 27030 | 81313;81314;81315 | chr2:178560121;178560120;178560119 | chr2:179424848;179424847;179424846 |
| N2A | 26103 | 78532;78533;78534 | chr2:178560121;178560120;178560119 | chr2:179424848;179424847;179424846 |
| N2B | 19606 | 59041;59042;59043 | chr2:178560121;178560120;178560119 | chr2:179424848;179424847;179424846 |
| Novex-1 | 19731 | 59416;59417;59418 | chr2:178560121;178560120;178560119 | chr2:179424848;179424847;179424846 |
| Novex-2 | 19798 | 59617;59618;59619 | chr2:178560121;178560120;178560119 | chr2:179424848;179424847;179424846 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs751444096  |
-2.364 | 0.012 | N | 0.476 | 0.111 | 0.294918367191 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.79E-05 | 0 |
| A/D | rs751444096 |
-2.364 | 0.012 | N | 0.476 | 0.111 | 0.294918367191 | gnomAD-4.0.0 | 6.84228E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19581E-06 | 2.31879E-05 | 0 |
| A/S | rs1276618314 |
-1.547 | None | N | 0.119 | 0.114 | 0.0297737177859 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/S | rs1276618314 |
-1.547 | None | N | 0.119 | 0.114 | 0.0297737177859 | gnomAD-4.0.0 | 3.18288E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 3.02389E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2955 | likely_benign | 0.2314 | benign | -0.844 | Destabilizing | 0.356 | N | 0.549 | neutral | None | None | None | None | N |
| A/D | 0.3906 | ambiguous | 0.3616 | ambiguous | -2.091 | Highly Destabilizing | 0.012 | N | 0.476 | neutral | N | 0.495623372 | None | None | N |
| A/E | 0.3052 | likely_benign | 0.296 | benign | -2.004 | Highly Destabilizing | None | N | 0.335 | neutral | None | None | None | None | N |
| A/F | 0.3307 | likely_benign | 0.3027 | benign | -0.842 | Destabilizing | 0.356 | N | 0.616 | neutral | None | None | None | None | N |
| A/G | 0.0765 | likely_benign | 0.0662 | benign | -1.379 | Destabilizing | None | N | 0.115 | neutral | N | 0.45845185 | None | None | N |
| A/H | 0.4329 | ambiguous | 0.383 | ambiguous | -1.853 | Destabilizing | 0.356 | N | 0.597 | neutral | None | None | None | None | N |
| A/I | 0.2492 | likely_benign | 0.2234 | benign | -0.105 | Destabilizing | 0.072 | N | 0.595 | neutral | None | None | None | None | N |
| A/K | 0.4299 | ambiguous | 0.3947 | ambiguous | -1.414 | Destabilizing | 0.016 | N | 0.445 | neutral | None | None | None | None | N |
| A/L | 0.1719 | likely_benign | 0.1571 | benign | -0.105 | Destabilizing | 0.031 | N | 0.447 | neutral | None | None | None | None | N |
| A/M | 0.2107 | likely_benign | 0.1931 | benign | -0.07 | Destabilizing | 0.628 | D | 0.597 | neutral | None | None | None | None | N |
| A/N | 0.225 | likely_benign | 0.1947 | benign | -1.367 | Destabilizing | 0.016 | N | 0.457 | neutral | None | None | None | None | N |
| A/P | 0.877 | likely_pathogenic | 0.874 | pathogenic | -0.366 | Destabilizing | 0.055 | N | 0.531 | neutral | N | 0.488258499 | None | None | N |
| A/Q | 0.3012 | likely_benign | 0.272 | benign | -1.358 | Destabilizing | 0.038 | N | 0.533 | neutral | None | None | None | None | N |
| A/R | 0.365 | ambiguous | 0.3388 | benign | -1.235 | Destabilizing | 0.072 | N | 0.535 | neutral | None | None | None | None | N |
| A/S | 0.0728 | likely_benign | 0.0703 | benign | -1.678 | Destabilizing | None | N | 0.119 | neutral | N | 0.373174164 | None | None | N |
| A/T | 0.076 | likely_benign | 0.0722 | benign | -1.502 | Destabilizing | None | N | 0.152 | neutral | N | 0.433476048 | None | None | N |
| A/V | 0.1527 | likely_benign | 0.1401 | benign | -0.366 | Destabilizing | 0.024 | N | 0.28 | neutral | N | 0.452237954 | None | None | N |
| A/W | 0.7092 | likely_pathogenic | 0.6575 | pathogenic | -1.524 | Destabilizing | 0.864 | D | 0.646 | neutral | None | None | None | None | N |
| A/Y | 0.4332 | ambiguous | 0.3825 | ambiguous | -1.015 | Destabilizing | 0.356 | N | 0.59 | neutral | 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.