Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21054 | 63385;63386;63387 | chr2:178588565;178588564;178588563 | chr2:179453292;179453291;179453290 |
| N2AB | 19413 | 58462;58463;58464 | chr2:178588565;178588564;178588563 | chr2:179453292;179453291;179453290 |
| N2A | 18486 | 55681;55682;55683 | chr2:178588565;178588564;178588563 | chr2:179453292;179453291;179453290 |
| N2B | 11989 | 36190;36191;36192 | chr2:178588565;178588564;178588563 | chr2:179453292;179453291;179453290 |
| Novex-1 | 12114 | 36565;36566;36567 | chr2:178588565;178588564;178588563 | chr2:179453292;179453291;179453290 |
| Novex-2 | 12181 | 36766;36767;36768 | chr2:178588565;178588564;178588563 | chr2:179453292;179453291;179453290 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs746070034  |
-0.063 | 0.457 | N | 0.463 | 0.204 | 0.26547132957 | gnomAD-2.1.1 | 5.27E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.1E-05 | 0 |
| R/G | rs746070034 |
-0.063 | 0.457 | N | 0.463 | 0.204 | 0.26547132957 | gnomAD-4.0.0 | 1.44203E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.85452E-05 | 0 | 0 |
| R/K | rs1164637816 |
0.112 | 0.003 | N | 0.42 | 0.043 | 0.165133752707 | gnomAD-2.1.1 | 2.11E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 2.46366E-04 | None | 0 | 0 | 0 |
| R/K | rs1164637816 |
0.112 | 0.003 | N | 0.42 | 0.043 | 0.165133752707 | gnomAD-4.0.0 | 5.05051E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.89371E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2895 | likely_benign | 0.2472 | benign | 0.105 | Stabilizing | 0.359 | N | 0.579 | neutral | None | None | None | None | I |
| R/C | 0.1911 | likely_benign | 0.1774 | benign | -0.093 | Destabilizing | 0.989 | D | 0.732 | deleterious | None | None | None | None | I |
| R/D | 0.5487 | ambiguous | 0.4404 | ambiguous | -0.07 | Destabilizing | 0.797 | D | 0.649 | prob.neutral | None | None | None | None | I |
| R/E | 0.2994 | likely_benign | 0.2645 | benign | 0.001 | Stabilizing | 0.359 | N | 0.549 | neutral | None | None | None | None | I |
| R/F | 0.3976 | ambiguous | 0.3815 | ambiguous | -0.104 | Destabilizing | 0.96 | D | 0.703 | prob.delet. | None | None | None | None | I |
| R/G | 0.2311 | likely_benign | 0.2043 | benign | -0.094 | Destabilizing | 0.457 | N | 0.463 | neutral | N | 0.491521487 | None | None | I |
| R/H | 0.1052 | likely_benign | 0.1025 | benign | -0.669 | Destabilizing | 0.888 | D | 0.633 | neutral | None | None | None | None | I |
| R/I | 0.1993 | likely_benign | 0.1782 | benign | 0.593 | Stabilizing | 0.857 | D | 0.723 | deleterious | N | 0.51543571 | None | None | I |
| R/K | 0.0702 | likely_benign | 0.0797 | benign | 0.009 | Stabilizing | 0.003 | N | 0.42 | neutral | N | 0.418082521 | None | None | I |
| R/L | 0.1738 | likely_benign | 0.159 | benign | 0.593 | Stabilizing | 0.528 | D | 0.463 | neutral | None | None | None | None | I |
| R/M | 0.2103 | likely_benign | 0.1987 | benign | 0.07 | Stabilizing | 0.989 | D | 0.616 | neutral | None | None | None | None | I |
| R/N | 0.4242 | ambiguous | 0.3711 | ambiguous | 0.172 | Stabilizing | 0.797 | D | 0.621 | neutral | None | None | None | None | I |
| R/P | 0.3087 | likely_benign | 0.2476 | benign | 0.451 | Stabilizing | 0.888 | D | 0.712 | prob.delet. | None | None | None | None | I |
| R/Q | 0.0975 | likely_benign | 0.0951 | benign | 0.124 | Stabilizing | 0.662 | D | 0.651 | prob.neutral | None | None | None | None | I |
| R/S | 0.378 | ambiguous | 0.3193 | benign | -0.105 | Destabilizing | 0.297 | N | 0.627 | neutral | N | 0.481419137 | None | None | I |
| R/T | 0.2124 | likely_benign | 0.1832 | benign | 0.102 | Stabilizing | 0.747 | D | 0.579 | neutral | N | 0.495809799 | None | None | I |
| R/V | 0.2449 | likely_benign | 0.2239 | benign | 0.451 | Stabilizing | 0.797 | D | 0.705 | prob.delet. | None | None | None | None | I |
| R/W | 0.18 | likely_benign | 0.1729 | benign | -0.2 | Destabilizing | 0.989 | D | 0.747 | deleterious | None | None | None | None | I |
| R/Y | 0.3004 | likely_benign | 0.2664 | benign | 0.22 | Stabilizing | 0.96 | D | 0.712 | prob.delet. | None | None | 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.