RGD:405663874 Rat Genome Database

RGD:405663874 Rat Genome Database

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Variant: RGD:405663874 - Homo sapiens

RGD ID:

405663874

ClinVar ID:

CV3290350

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ARPC4-TTLL3 TTLL3

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	3	9,870,944
GRCh38	3	9,829,260

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001387466.1:c.1056C>A NM_001387464.1:c.1281C>A NM_001387465.1:c.1281C>A NM_001387452.1:c.1320C>A More...	06/24/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	TTLL3
Accession:	NM_001387455
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	516

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVD EALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDR NIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDS YIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQ TSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYK QPVTTSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387456
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	516

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVD EALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDR NIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDS YIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQ TSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYK QPVTTSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387447
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	460

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVD EALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDR NIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQE MGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQAD TLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEGKDSGTPT HRSASRKGTGARSLGHSEKPVSTATTSAPGKGKKGKAKRATALVCPNLWEWDAPSTRMGCIFTMTFSSGDRQPHHLNRLP LSPKNPRALARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSI LKPRKVGLDL*

Gene Symbol:	TTLL3
Accession:	NM_001387462
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	472

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEEF QPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKS EWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVV HEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQ KYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNM WSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTA VTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPVTTSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQ ARP*

Gene Symbol:	TTLL3
Accession:	NM_001025930
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	616

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQGPDAPLLLSARELGPGRRGSASWYRQEGGAVCNWLRKPQPLEPRTSFPSARRSEFRPPRRLPWAGPASAQSEEGHAGG RCQAGSPAPARRLSGAFKTLVPGTHAQGASDTHPLGPPHTPVLDPSPQDGFPVLWRGSSKASHMNRLRNAKIYVERAVKQ KKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEEFQPSQLFDFDDLLKFDD LDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASG DKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRC EDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDL RQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAP NAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRV VIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKA QLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSILKPRKAPALLCLRGPQLEVPC CLCPLKSEQFLAPVGRSRPKANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKLGKPLLRFPTALVLDPTP NKKKQVKYLGLDSIAVGGSRVDGARPCTPGSTARA*

Gene Symbol:	TTLL3
Accession:	NM_001387465
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	427

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGW SLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNP VVMKDGNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCR KASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPVTTSPAS TPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387463
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	440

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSP EFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDM EGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWF YRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVI HALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFE LIYKQPVTTSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387452
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	440

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSP EFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDM EGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWF YRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVI HALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFE LIYKQAPALLCLRGPQLEVPCCLCPLKSEQFLAPVGRSRPKANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLG DMKLGKPLLRFPTALVLDPTPNKKKQVKYLGLDSIAVGGSRVDGARPCTPGSTARA*

Gene Symbol:	TTLL3
Accession:	NM_001387454
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	516

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVD EALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDR NIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDS YIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQ TSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYK QPVTTSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387449
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	473

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVK SEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQV VHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVV QKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDN MWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPST AVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQ RGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSILKPR KVGLDL*

Gene Symbol:	TTLL3
Accession:	NM_001387458
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	440

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSP EFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDM EGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWF YRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVI HALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFE LIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEGKDSGTPTHSPSPLPQPPHQGPAAFSPC TPTPGPGPQTTAQQAGGH*

Gene Symbol:	ARPC4-TTLL3
Accession:	NM_001198793
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	534

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTATLRPYLSAVRATLQAALCLENFSSQVVERHNKPEVEVRSSKELLLQPVTISRNEKEKVLIEGSINSVRVSIAVKQAD EIEKILCHKFMRFMMMRAENFFILRRKPVEQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGD SDTTEDEDEDEDEEFQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIGDK QPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCED ILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQ WFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNA WSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVI DRMLDRNCDTGAFELIYKQPVTTSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387461
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	473

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVK SEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQV VHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVV QKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDN MWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPST AVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPVTTSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRP QARP*

Gene Symbol:	TTLL3
Accession:	NM_001387450
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	531

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVRPVRPARSGLQRLRGRQDAGVEGLGVGRRAAEGFPVLWRGSSKASHMNRLRNAKIYVERAVKQKKIFTIQGCYPVIRC LLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEEFQPSQLFDFDDLLKFDDLDGTHALMSRMVQNE IPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIGDKQPK KQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQ QLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFL VTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWST IIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRM LDRNCDTGAFELIYKQPVTTSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387446
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	516

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVD EALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDR NIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDS YIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQ TSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYK QPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHS KLVGTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSILKPRKAPALLCLRGPQLEVPCCLCPLKSEQFLAPVGRSRPK ANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKLGKPLLRFPTALVLDPTPNKKKQVKYLGLDSIAVGGSR VDGARPCTPGSTARA*

Gene Symbol:	TTLL3
Accession:	NM_001387453
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	440

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSP EFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDM EGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWF YRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVI HALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFE LIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLR RQHSKLVGTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSILKPRKVGLDL*

Gene Symbol:	TTLL3
Accession:	NM_001387467
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	261

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRG IMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLD NSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFEL YGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLL VEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEAEVSGSLRKLPKVAQLRRGTAGMQTQPVTTSPASTPRPSCLLPMYSD TRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001366051
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	473

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVK SEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQV VHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVV QKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDN MWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPST AVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQ RGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSILKPR KAPALLCLRGPQLEVPCCLCPLKSEQFLAPVGRSRPKANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKL GKPLLRFPTALVLDPTPNKKKQVKYLGLDSIAVGGSRVDGARPCTPGSTARA*

Gene Symbol:	TTLL3
Accession:	NM_001387464
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	427

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGW SLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNP VVMKDGNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCR KASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPVTTSPAS TPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387460
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	483

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGW SLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNP VVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSC HRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEI NARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPVTTSPASTPRPSCLLPMYSDTRARSSDDSTA SWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387459
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	483

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGW SLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNP VVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSC HRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEI NARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPVTTSPASTPRPSCLLPMYSDTRARSSDDSTA SWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387451
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	483

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGW SLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNP VVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSC HRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEI NARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMG VRPAVPLLTQRGSGEGKDSGTPTHSPSPLPQPPHQGPAAFSPCTPTPGPGPQTTAQQAGGH*

Gene Symbol:	TTLL3
Accession:	NM_001387466
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	352

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMETSSPRNRRKTQCWCPQSLWMKLCVRARSTLATWPTWTSTRTWRPRCTSPPRAGP SSSSATTKWSSIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRF STQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQD TVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPVT TSPASTPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387448
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	473

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVK SEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQV VHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVV QKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDN MWSSQRFQAHLQEMGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPST AVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQ RGSGEGKDSGTPTHRSASRKGTGARSLGHSEKPVSTATTSAPGKGKKAEVSGSLRKLPKVAQLRRGTAGMQTQPVTTSPA STPRPSCLLPMYSDTRARSSDDSTASWWALRPCRPQARP*

Gene Symbol:	TTLL3
Accession:	NM_001387457
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	460

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEE FQPSQLFDFDDLLKFDDLDGTHALMSRMVQNEIPYFIWTTRRDVLDCRFLSKDQMINHYARAGSFTTKVGLCLNLRNLPW FDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQPKKQEKNPVLVSPEFVD EALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDR NIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQE MGAPNAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINARPTMAPSTAVTARLCAGVQAD TLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEGKDSGTPT HSPSPLPQPPHQGPAAFSPCTPTPGPGPQTTAQQAGGH*

Gene Symbol:	TTLL3
Accession:	NR_170664
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_037162
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_170662
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_170665
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_170663
Location:	EXON;NON-CODING

Gene Symbol:	TTLL3
Accession:	NR_170661
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004418123	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ARPC4-TTLL3	CLINVAR
	TTLL3	CLINVAR
OMIM	619195	CLINVAR