Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35916 | 107971;107972;107973 | chr2:178527242;178527241;178527240 | chr2:179391969;179391968;179391967 |
| N2AB | 34275 | 103048;103049;103050 | chr2:178527242;178527241;178527240 | chr2:179391969;179391968;179391967 |
| N2A | 33348 | 100267;100268;100269 | chr2:178527242;178527241;178527240 | chr2:179391969;179391968;179391967 |
| N2B | 26851 | 80776;80777;80778 | chr2:178527242;178527241;178527240 | chr2:179391969;179391968;179391967 |
| Novex-1 | 26976 | 81151;81152;81153 | chr2:178527242;178527241;178527240 | chr2:179391969;179391968;179391967 |
| Novex-2 | 27043 | 81352;81353;81354 | chr2:178527242;178527241;178527240 | chr2:179391969;179391968;179391967 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs1686792927  |
None | 0.001 | N | 0.287 | 0.153 | 0.293502639404 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | -1.992(OBSL1) -0.882(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8489 | likely_pathogenic | 0.8386 | pathogenic | -2.062 | Highly Destabilizing | 0.505 | D | 0.648 | neutral | N | 0.497569294 | None | -1.632(OBSL1) -0.88(OBSCN) | N |
| V/C | 0.9858 | likely_pathogenic | 0.9862 | pathogenic | -1.632 | Destabilizing | 0.991 | D | 0.757 | deleterious | None | None | None | -2.007(OBSL1) -0.267(OBSCN) | N |
| V/D | 0.9978 | likely_pathogenic | 0.9965 | pathogenic | -2.237 | Highly Destabilizing | 0.967 | D | 0.882 | deleterious | None | None | None | -1.85(OBSL1) -0.773(OBSCN) | N |
| V/E | 0.9888 | likely_pathogenic | 0.984 | pathogenic | -2.024 | Highly Destabilizing | 0.879 | D | 0.858 | deleterious | N | 0.497822784 | None | -1.961(OBSL1) -0.818(OBSCN) | N |
| V/F | 0.6811 | likely_pathogenic | 0.6462 | pathogenic | -1.28 | Destabilizing | 0.704 | D | 0.767 | deleterious | None | None | None | -1.753(OBSL1) -0.026(OBSCN) | N |
| V/G | 0.9695 | likely_pathogenic | 0.96 | pathogenic | -2.563 | Highly Destabilizing | 0.879 | D | 0.872 | deleterious | N | 0.497822784 | None | -1.529(OBSL1) -0.882(OBSCN) | N |
| V/H | 0.9972 | likely_pathogenic | 0.9964 | pathogenic | -1.996 | Destabilizing | 0.991 | D | 0.873 | deleterious | None | None | None | -1.728(OBSL1) 0.215(OBSCN) | N |
| V/I | 0.1202 | likely_benign | 0.1258 | benign | -0.668 | Destabilizing | 0.003 | N | 0.266 | neutral | N | 0.440666671 | None | -1.992(OBSL1) -0.882(OBSCN) | N |
| V/K | 0.9912 | likely_pathogenic | 0.9877 | pathogenic | -1.755 | Destabilizing | 0.906 | D | 0.857 | deleterious | None | None | None | -2.682(OBSL1) -0.879(OBSCN) | N |
| V/L | 0.5962 | likely_pathogenic | 0.5843 | pathogenic | -0.668 | Destabilizing | 0.001 | N | 0.287 | neutral | N | 0.34426234 | None | -1.992(OBSL1) -0.882(OBSCN) | N |
| V/M | 0.545 | ambiguous | 0.5248 | ambiguous | -0.729 | Destabilizing | 0.826 | D | 0.646 | neutral | None | None | None | -1.803(OBSL1) -0.293(OBSCN) | N |
| V/N | 0.9944 | likely_pathogenic | 0.992 | pathogenic | -2.058 | Highly Destabilizing | 0.967 | D | 0.894 | deleterious | None | None | None | -1.801(OBSL1) -0.489(OBSCN) | N |
| V/P | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -1.107 | Destabilizing | 0.967 | D | 0.868 | deleterious | None | None | None | -1.865(OBSL1) -0.879(OBSCN) | N |
| V/Q | 0.9901 | likely_pathogenic | 0.9862 | pathogenic | -1.901 | Destabilizing | 0.967 | D | 0.885 | deleterious | None | None | None | -1.99(OBSL1) -0.584(OBSCN) | N |
| V/R | 0.9865 | likely_pathogenic | 0.9809 | pathogenic | -1.589 | Destabilizing | 0.906 | D | 0.889 | deleterious | None | None | None | -2.418(OBSL1) -0.768(OBSCN) | N |
| V/S | 0.9792 | likely_pathogenic | 0.9736 | pathogenic | -2.703 | Highly Destabilizing | 0.906 | D | 0.845 | deleterious | None | None | None | -1.932(OBSL1) -0.493(OBSCN) | N |
| V/T | 0.9145 | likely_pathogenic | 0.8993 | pathogenic | -2.329 | Highly Destabilizing | 0.575 | D | 0.675 | neutral | None | None | None | -2.076(OBSL1) -0.554(OBSCN) | N |
| V/W | 0.9971 | likely_pathogenic | 0.9965 | pathogenic | -1.588 | Destabilizing | 0.991 | D | 0.852 | deleterious | None | None | None | -1.985(OBSL1) 0.079(OBSCN) | N |
| V/Y | 0.9853 | likely_pathogenic | 0.9817 | pathogenic | -1.256 | Destabilizing | 0.906 | D | 0.754 | deleterious | None | None | None | -1.753(OBSL1) 0.055(OBSCN) | 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.